Alexis Brice

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Alexis Brice is affiliated with the following schools: University of California, Berkeley, Stanford University, Sorbonne University

Alexis Brice's AcademicInfluence.com Rankings

Alexis Brice

Biology

#4900

World Rank

#7247

Historical Rank

Molecular Biology

#405

World Rank

#413

Historical Rank

Neuroscience

#536

World Rank

#556

Historical Rank

Biochemistry

#538

World Rank

#626

Historical Rank

biology Degrees

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Biology

Alexis Brice's Degrees

PhD Neuroscience University of California, Berkeley
Masters Biology Stanford University
Bachelors Biochemistry University of California, Berkeley

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Alexis Brice's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease (2013) (3484)
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism (2002) (2622)
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion (1996) (2557)
Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease (2011) (1701)
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease (2014) (1591)
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study (2008) (1293)
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014) (1230)
Association between early-onset Parkinson's disease and mutations in the parkin gene. (2000) (1192)
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy (2006) (1173)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study (2012) (1007)
Clinical and genetic abnormalities in patients with Friedreich's ataxia. (1996) (981)
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 (2000) (970)
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (2009) (965)
Parkinson's disease: from monogenic forms to genetic susceptibility factors. (2009) (931)
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies (2011) (873)
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) (871)
Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease (2004) (864)
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats (1996) (853)
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. (1999) (748)
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion (1997) (741)
First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene (2001) (740)
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias (1995) (667)
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia (1999) (601)
G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome (2013) (587)
What genetics tells us about the causes and mechanisms of Parkinson's disease. (2011) (557)
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. (2004) (546)
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database (2012) (546)
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. (2006) (539)
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. (1999) (528)
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. (2003) (502)
Genome-Wide Scan for Autism Susceptibility Genes (1999) (473)
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 (2004) (458)
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders (2014) (452)
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) (452)
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (2016) (424)
Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study (1996) (422)
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism (2003) (419)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features (1996) (414)
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. (2003) (405)
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. (2014) (395)
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes (1999) (361)
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. (2013) (357)
A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K–Akt signalling (2006) (353)
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. (2002) (353)
Spectrin mutations cause spinocerebellar ataxia type 5 (2006) (353)
Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease. (2004) (318)
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females (2009) (315)
The natural history of degenerative ataxia: a retrospective study in 466 patients. (1998) (314)
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. (1998) (314)
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. (2008) (307)
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis (2013) (307)
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum (2007) (302)
Parkin mutations are frequent in patients with isolated early-onset parkinsonism. (2003) (301)
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration (2009) (301)
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. (1996) (299)
How much phenotypic variation can be attributed to parkin genotype? (2003) (296)
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 (2001) (295)
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. (2016) (292)
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1 (1993) (290)
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. (2000) (283)
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes (2006) (279)
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations (2010) (279)
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. (2003) (278)
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (2017) (278)
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). (1998) (273)
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. (1995) (271)
A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism (2012) (264)
Frontotemporal dementia and its subtypes: a genome-wide association study (2014) (262)
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations (2001) (254)
Alpha-synuclein and Parkinson's disease (2000) (253)
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. (1997) (252)
A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2 (2002) (252)
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study (2011) (246)
Mutations in COQ2 in familial and sporadic multiple-system atrophy. (2013) (246)
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. (2011) (245)
The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration. (2003) (243)
Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease. (2015) (243)
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. (1996) (242)
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. (1997) (241)
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. (1998) (228)
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. (2006) (227)
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. (2003) (220)
Complex relationship between Parkin mutations and Parkinson disease. (2002) (212)
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. (2001) (208)
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. (2012) (208)
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. (2009) (207)
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. (2008) (205)
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. (1998) (204)
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. (1999) (200)
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers (2012) (199)
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's (2016) (196)
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's (2016) (196)
Hereditary spastic paraplegias: an update (2007) (195)
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. (2008) (195)
Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update (2005) (194)
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. (2004) (191)
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. (1999) (189)
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease (2009) (189)
G2019S LRRK2 mutation in French and North African families with Parkinson's disease (2005) (189)
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms (2019) (189)
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? (2000) (187)
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. (2008) (186)
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases (2017) (185)
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology (2000) (184)
De novo mutations in HCN1 cause early infantile epileptic encephalopathy (2014) (182)
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism (1998) (181)
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes (2012) (175)
A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia (2010) (174)
Akt is altered in an animal model of Huntington's disease and in patients (2005) (174)
Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study (2015) (172)
Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014) (172)
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases (2016) (172)
Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. (1998) (171)
Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion (1999) (171)
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. (2012) (171)
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. (2003) (170)
Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715 → Met βAPP-770 mutation responsible for probable early-onset Alzheimer’s disease (1999) (170)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. (2013) (169)
Progranulin null mutations in both sporadic and familial frontotemporal dementia (2007) (169)
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. (2011) (167)
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations (1998) (165)
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia. (2006) (164)
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study (2015) (163)
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. (2013) (161)
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. (1998) (161)
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers (2014) (160)
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. (2001) (157)
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (2002) (156)
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1 (1995) (156)
Longitudinal analysis of impulse control disorders in Parkinson disease (2018) (155)
Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function (2005) (154)
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3 (1999) (154)
Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy. (2002) (153)
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. (2006) (151)
C9orf72 repeat expansions are a rare genetic cause of parkinsonism. (2013) (151)
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. (2013) (149)
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. (2012) (149)
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. (2000) (148)
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study (2013) (145)
Are cognitive changes the first symptoms of Huntington’s disease? A study of gene carriers (1998) (143)
Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex. (1997) (143)
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. (2001) (141)
Ultrastructural PMP22 expression in inherited demyelinating neuropathies (1996) (141)
Role of mendelian genes in "sporadic" Parkinson's disease. (2012) (140)
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. (2009) (140)
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. (2013) (140)
Mutations in KCND3 cause spinocerebellar ataxia type 22 (2012) (139)
The genetic landscape of Parkinson's disease. (2018) (136)
Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels. (2007) (135)
LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century. (2005) (134)
Implication of the immune system in Alzheimer's disease: evidence from genome-wide pathway analysis. (2010) (134)
Large-scale replication and heterogeneity in Parkinson disease genetic loci (2012) (133)
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation (2000) (132)
Park6‐linked parkinsonism occurs in several european families (2002) (132)
Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotype (2002) (132)
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (2009) (131)
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. (2014) (131)
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? (2007) (131)
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. (2007) (130)
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study (2019) (128)
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders (2009) (128)
Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance. (2014) (126)
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. (2010) (125)
FXTAS: New insights and the need for revised diagnostic criteria (2012) (124)
Genetic overlap between Alzheimer’s disease and Parkinson’s disease at the MAPT locus (2015) (124)
Clinical and molecular features of spinocerebellar ataxia type 6 (1997) (124)
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. (2001) (123)
Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy (2009) (122)
Cognitive deficits in spinocerebellar ataxia 2. (1999) (122)
Prediction of cognition in Parkinson's disease with a clinical–genetic score: a longitudinal analysis of nine cohorts (2017) (122)
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia (2007) (121)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias (2014) (120)
MID1, mutated in Opitz syndrome, encodes a ubiquitin ligase that targets phosphatase 2A for degradation (2002) (119)
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. (2007) (117)
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 (2009) (117)
Polygenic risk of Parkinson disease is correlated with disease age at onset (2015) (116)
Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. (1997) (116)
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion (1995) (116)
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. (2001) (115)
Parkinson's disease patients show reduced cortical‐subcortical sensorimotor connectivity (2013) (114)
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. (2013) (112)
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings (2012) (112)
The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations. (2016) (112)
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia (2006) (110)
Sequencing of the α-Synuclein Gene in a Large Series of Cases of Familial Parkinson's Disease Fails to Reveal any Further Mutations (1998) (110)
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non‐Ashkenazi Jewish ancestry (2017) (110)
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years (2006) (109)
Association study between iron-related genes polymorphisms and Parkinson's disease (2002) (109)
Perspective on future role of biological markers in clinical therapy trials of Alzheimer's disease: a long-range point of view beyond 2020. (2014) (108)
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. (2004) (108)
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations (2012) (107)
An expanded CAG repeat sequence in spinocerebellar ataxia type 7. (1996) (107)
The TOMM machinery is a molecular switch in PINK1 and PARK2/PARKIN-dependent mitochondrial clearance (2013) (107)
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia (2006) (106)
α-Synuclein gene duplication is present in sporadic Parkinson disease (2008) (105)
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease (2009) (105)
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants (2012) (105)
De novo expansion of intermediate alleles in spinocerebellar ataxia 7. (1998) (105)
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. (1999) (105)
Genetics of Parkinson's disease and biochemical studies of implicated gene products. (2002) (104)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
Heterogeneous Intracellular Localization and Expression of Ataxin-3 (1998) (104)
The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease. (1995) (104)
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE (2012) (104)
Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort (2005) (102)
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. (1996) (101)
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25‐q31 (2001) (101)
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (2009) (100)
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients (2014) (100)
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases (2005) (99)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture (2021) (99)
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis. (2010) (98)
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis (2019) (98)
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. (2006) (98)
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. (2014) (98)
Association between the extended tau haplotype and frontotemporal dementia. (2002) (98)
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations (2006) (98)
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease (2005) (97)
Variants associated with Gaucher disease in multiple system atrophy (2015) (97)
Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts (2019) (97)
Parkin protects dopaminergic neurons from excessive Wnt/beta-catenin signaling. (2009) (97)
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes (2005) (96)
Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years (2018) (96)
Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis (2002) (96)
Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease. (2011) (96)
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family (2001) (95)
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. (2002) (95)
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. (2001) (94)
Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk (2018) (94)
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. (2010) (94)
Recent advances in hereditary spastic paraplegia (2001) (93)
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. (2004) (93)
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. (2010) (92)
LRRK2 impairs PINK1/Parkin-dependent mitophagy via its kinase activity: pathologic insights into Parkinson's disease. (2019) (92)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases (2017) (92)
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. (2000) (92)
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. (2019) (92)
Genetics of Parkinson's disease: LRRK2 on the rise. (2005) (91)
Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33 (1996) (91)
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. (1999) (91)
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. (2000) (91)
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I (1998) (91)
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. (2008) (91)
A locus for simple pure febrile seizures maps to chromosome 6q22-q24. (2002) (89)
Combined vitamin B6-magnesium treatment in autism spectrum disorder. (2005) (89)
Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4) (2008) (89)
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. (2013) (88)
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. (2010) (88)
Are (CTG)n expansions at the SCA8 locus rare polymorphisms? (2000) (86)
Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations (1995) (86)
New mutations in protein kinase Cγ associated with spinocerebellar ataxia type 14 (2005) (85)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
Choline acetyltransferase activity and [ 3H]vesamicol binding in the temporal cortex of patients with Alzheimer's disease, Parkinson's disease, and rats with basal forebrain lesions (1990) (85)
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes (2018) (85)
ELOVL5 mutations cause spinocerebellar ataxia 38. (2014) (85)
A multidisciplinary study of patients with early-onset PD with and without parkin mutations (2009) (84)
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease (2007) (84)
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. (1998) (84)
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction (2011) (84)
Parkin deficiency modulates NLRP3 inflammasome activation by attenuating an A20‐dependent negative feedback loop (2018) (84)
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum (2009) (83)
A Conditional Pan-Neuronal Drosophila Model of Spinocerebellar Ataxia 7 with a Reversible Adult Phenotype Suitable for Identifying Modifier Genes (2007) (83)
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p (2004) (83)
PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins (2006) (82)
KCNC3: phenotype, mutations, channel biophysics—a study of 260 familial ataxia patients (2010) (82)
Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease (2016) (82)
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. (2018) (81)
The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates (2003) (81)
Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk (2018) (81)
Myoclonus–dystonia (2008) (80)
More missense in amyloid gene (1992) (80)
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia (2014) (80)
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies (2017) (80)
High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells. (1999) (79)
The phenotype of “pure” autosomal dominant spastic paraplegia (1994) (79)
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease (1999) (79)
Screening of OPTN in French familial amyotrophic lateral sclerosis (2011) (79)
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. (2015) (79)
The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases (1998) (78)
Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementia (2008) (78)
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. (2013) (78)
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia (2011) (78)
ER-stress-associated functional link between Parkin and DJ-1 via a transcriptional cascade involving the tumor suppressor p53 and the spliced X-box binding protein XBP-1 (2013) (78)
Decreased choline acetyltransferase mRNA expression in the nucleus basalis of Meynert in Alzheimer disease: an in situ hybridization study. (1992) (77)
Genetic complexity and Parkinson's disease. (1997) (77)
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis (2007) (76)
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. (2003) (76)
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias (2010) (76)
A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years. (1996) (76)
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. (1996) (75)
Subtle cognitive impairment but no dementia in patients with spastin mutations. (2003) (75)
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. (1996) (75)
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease (2015) (75)
RAD51 haploinsufficiency causes congenital mirror movements in humans. (2012) (74)
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. (2016) (74)
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts (2015) (74)
A novel DCC mutation and genetic heterogeneity in congenital mirror movements (2011) (74)
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease (2011) (74)
Distribution of ataxin-7 in normal human brain and retina. (2000) (73)
Clinical and MRI findings in spinocerebellar ataxia type 5 (1999) (73)
Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies (2000) (72)
Leucine-Rich Repeat Kinase 2 Is Associated With the Endoplasmic Reticulum in Dopaminergic Neurons and Accumulates in the Core of Lewy Bodies in Parkinson Disease (2010) (72)
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. (2014) (72)
Analysis of blood-based gene expression in idiopathic Parkinson disease (2017) (72)
Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson's disease (2013) (72)
Genetics of Parkinson's disease and biochemical studies of implicated gene products. (2002) (72)
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. (1997) (72)
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data (2016) (71)
Monogenic idiopathic epilepsies (2004) (71)
Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin. (2014) (71)
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. (2015) (71)
Charcot‐Marie‐Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families (1997) (70)
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD. (2015) (70)
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature (2017) (69)
Variations in the APP gene promoter region and risk of Alzheimer disease (2007) (69)
Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content. (2002) (69)
A major locus for several phenotypes of myoclonus–dystonia on chromosome 7q (2001) (69)
LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort. (2010) (69)
PRRT2 mutations (2012) (69)
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance (2017) (69)
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration (2017) (68)
Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease (2002) (68)
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease. (1999) (68)
Recent advances in the genetics of spastic paraplegias (2008) (67)
Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I (1994) (67)
Identification of VPS35 mutations replicated in French families with Parkinson disease (2012) (67)
Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study. (2010) (66)
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. (2014) (66)
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 (2014) (66)
Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion (2009) (65)
Hereditary ataxias and paraparesias: clinical and genetic update (2018) (65)
Genetics of movement disorders (1996) (65)
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders (2014) (65)
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study (2016) (65)
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. (1996) (65)
No replication of genetic association between candidate polymorphisms and Alzheimer's disease (2011) (65)
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls (2007) (64)
A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot‐Marie‐Tooth disease (1997) (64)
High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry (2015) (64)
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study (2006) (64)
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression (2013) (64)
Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset (1998) (64)
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1 (2007) (63)
Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. (2013) (63)
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28) (2005) (62)
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene (2003) (62)
Mitochondrial dysfunctions in Parkinson's disease. (2014) (62)
Sex–dependent rearrangements resulting in CMT1A and HNPP (1997) (62)
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia (2015) (62)
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders (2013) (62)
Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice. (2013) (61)
Predominant dystonia with marked cerebellar atrophy (2006) (61)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease (2018) (61)
A new F‐box protein 7 gene mutation causing typical Parkinson's disease (2015) (61)
Apolipoprotein E ϵ4 Allele and Familial Aggregation of Alzheimer Disease (1998) (61)
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. (2011) (60)
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V (2006) (60)
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. (2006) (60)
Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes (2018) (60)
A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia. (2015) (60)
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. (2007) (60)
A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism (2018) (60)
SYNE1 mutations in autosomal recessive cerebellar ataxia. (2013) (59)
In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7 (2015) (59)
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction (2013) (59)
PARKIN Inactivation Links Parkinson's Disease to Melanoma. (2016) (59)
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease (2008) (59)
Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease (2004) (58)
Parkinson's disease: from causes to mechanisms. (2005) (58)
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. (2003) (58)
Autism, language delay and mental retardation in a patient with 7q11 duplication (2007) (57)
DYT1 mutation in French families with idiopathic torsion dystonia. (1999) (57)
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease (2014) (57)
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group. (1996) (57)
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions (2004) (57)
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. (2005) (57)
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. (1999) (56)
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. (2015) (56)
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson’s disease (2009) (56)
Combined vitamin B6-magnesium treatment in autism spectrum disorder. (2002) (56)
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes (2014) (56)
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex (2018) (56)
Shared genetic contribution to ischemic stroke and Alzheimer's disease (2016) (55)
Nuclear inclusions in spinocerebellar ataxia type 1 (1999) (55)
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay (2015) (55)
CAG/CTG repeat expansions at the Huntington’s disease–like 2 locus are rare in Huntington’s disease patients (2002) (55)
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. (2007) (55)
Neurotoxic Calcium Transfer from Endoplasmic Reticulum to Mitochondria Is Regulated by Cyclin-Dependent Kinase 5-Dependent Phosphorylation of Tau (2005) (54)
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal‐Recessive Juvenile‐Onset Parkinson's Disease (2016) (54)
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases (2003) (54)
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. (2008) (54)
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. (2015) (54)
Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death (2007) (54)
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A (2004) (54)
Crosstalking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7 (2014) (54)
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism (2003) (54)
Genetic risk of Parkinson disease and progression: (2019) (53)
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. (2013) (53)
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice (2014) (53)
Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus (2013) (53)
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia (2015) (53)
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study (2018) (52)
Frequency of the DYT1 mutation in primary torsion dystonia without family history. (2000) (52)
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. (2014) (52)
Inflammatory profile in LRRK2-associated prodromal and clinical PD (2016) (52)
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity (2009) (52)
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado‐Joseph disease (1998) (52)
Homozygosity in Huntington’s disease (1999) (52)
Autism, language delay and mental retardation in a patient with 7q11 duplication (2009) (51)
Spinocerebellar ataxia 7 (SCA7) (2003) (51)
Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance (2016) (50)
Candidate gene studies in focal dystonia (2003) (50)
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish (2012) (50)
Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. (1994) (50)
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration (2003) (50)
Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. (1993) (49)
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease (2021) (49)
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson’s disease in European populations (2005) (49)
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. (2001) (49)
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. (2010) (48)
Use of support vector machines for disease risk prediction in genome‐wide association studies: Concerns and opportunities (2012) (48)
Parkin immunoreactivity in the brain of human and non‐human primates: An immunohistochemical analysis in normal conditions and in Parkinsonian syndromes (2001) (48)
Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype–genotype correlation (1999) (47)
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds (2010) (47)
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). (1998) (47)
Differential distribution of the normal and mutated forms of huntingtin in the human brain (1997) (47)
Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia (2019) (47)
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33 (1997) (47)
SPG11 spastic paraplegia (2009) (47)
Characteristics of clinical and electrophysiological pattern of Charcot‐Marie‐Tooth 4C (2012) (47)
Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease? (2008) (47)
A large pedigree with early-onset Alzheimer's disease (1995) (47)
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. (2019) (46)
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. (1995) (46)
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype (2014) (46)
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. (2012) (46)
Delayed‐onset Friedreich's ataxia revisited (2016) (46)
Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. (2003) (46)
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy (2009) (46)
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias (2017) (46)
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. (1998) (45)
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations (2016) (45)
Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians (2011) (45)
Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations (2001) (45)
Nonsteroidal Anti‐inflammatory Use and LRRK2 Parkinson's Disease Penetrance (2020) (45)
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. (2006) (45)
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion (2014) (44)
Deletion of the parkin and PACRG gene promoter in early‐onset parkinsonism (2007) (44)
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism (2003) (43)
PARK6 is a common cause of familial parkinsonism (2002) (43)
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity (2006) (43)
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum (2010) (43)
Association study of the GAB2 gene with the risk of developing Alzheimer's disease (2008) (43)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism (2013) (43)
Familial essential tremor and idiopathic torsion dystonia are different genetic entities (1993) (42)
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations (2007) (42)
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes. (2014) (42)
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. (2015) (42)
The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity (2001) (42)
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions (2016) (42)
Patients homozygous for the 17p 11.2 duplication in charcot‐marie‐tooth type 1A Disease (1997) (42)
Tissue- and Cell-Specific Mitochondrial Defect in Parkin-Deficient Mice (2014) (42)
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis (2012) (41)
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability (2012) (41)
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. (2013) (41)
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies (1994) (41)
The effect of tau genotype on clinical features in FTDP-17. (2005) (41)
Inflammatory profile discriminates clinical subtypes in LRRK2‐associated Parkinson's disease (2017) (40)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia (2013) (40)
A Multitracer Dopaminergic PET Study of Young-Onset Parkinsonian Patients With and Without Parkin Gene Mutations (2009) (39)
Differences in the Presentation and Progression of Parkinson's Disease by Sex (2020) (39)
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? (2012) (39)
Exonic deletions of FXN and early-onset Friedreich ataxia. (2012) (39)
Autosomal dominant cerebellar ataxias. (2011) (39)
Parkin Deficiency Delays Motor Decline and Disease Manifestation in a Mouse Model of Synucleinopathy (2009) (39)
APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population (2000) (39)
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. (2013) (39)
Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease (2004) (39)
Population‐specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium (2013) (39)
Is the Saitohin gene involved in neurodegenerative diseases? (2002) (39)
Partial deletion of the MAPT gene: A novel mechanism of FTDP‐17 (2009) (38)
Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view (2018) (38)
Unstable mutations and neurodegenerative disorders (1998) (38)
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG) (1999) (38)
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. (1992) (38)
Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients (2014) (38)
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach. (2016) (37)
Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa (2011) (37)
New autosomal recessive cerebellar ataxias with oculomotor apraxia (2005) (37)
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. (1998) (37)
Cardiomyopathy in Friedreich's ataxia: a Doppler-echocardiographic study. (1992) (37)
Deregulation of autophagy in postmortem brains of Machado‐Joseph disease patients (2018) (37)
Exhaustive analysis of BH 4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia (2009) (37)
Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease? (2015) (36)
Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing (2018) (36)
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease (2005) (36)
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. (2006) (35)
Parkin interacts with the proteasome subunit alpha4. (2005) (35)
Requirement for Zebrafish Ataxin-7 in Differentiation of Photoreceptors and Cerebellar Neurons (2012) (35)
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 (2019) (35)
Mutations in the netrin-1 gene cause congenital mirror movements (2017) (35)
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME) (2002) (35)
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21 (2007) (34)
Diagnosis of “sporadic” Huntington's disease (1995) (34)
Mental deficiency in three families with SPG4 spastic paraplegia (2008) (34)
Clinical and genetic aspects of spinocerebellar degeneration (2000) (34)
The parkin gene and its phenotype (2001) (34)
Congenital mirror movements (2014) (34)
The PINK1 kinase-driven ubiquitin ligase Parkin promotes mitochondrial protein import through the presequence pathway in living cells (2019) (34)
Atlastin‐1, the dynamin‐like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum (2009) (34)
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype (2011) (33)
A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3 (2007) (33)
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions (2014) (33)
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). (2009) (33)
A-SYNUCLEIN GENE DUPLICATION IS PRESENT IN SPORADIC PARKINSON DISEASE. Authors' reply (2008) (33)
Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA 7 (33)
No evidence for association of familial Parkinson's disease with CAG repeat expansion (1995) (33)
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity (2014) (32)
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon. (1997) (32)
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation (2007) (32)
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. (2006) (32)
Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study. (2003) (32)
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers (2019) (32)
Coincidence of two genetic forms of Charcot–Marie–Tooth disease in a single family (2004) (32)
Are parkin patients particularly suited for deep‐brain stimulation? (2008) (31)
PARK11 is not linked with Parkinson's disease in European families (2005) (31)
Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients (2009) (31)
Parkin maintains mitochondrial levels of the protective Parkinson’s disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10 (2015) (31)
Heterozygous OPA1 mutations in Behr syndrome. (2011) (31)
A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. (2009) (31)
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France (2013) (31)
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2. (1995) (31)
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? (1996) (30)
The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease. (1998) (30)
Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice (2003) (30)
A novel locus for autosomal recessive spastic ataxia on chromosome 17p (2007) (30)
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease (2011) (30)
Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism (2003) (30)
Recurrent polyradiculoneuropathy with the 17p11.2 deletion (1997) (29)
Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease. (1998) (29)
Mutation analysis of Parkinson's disease genes in a Russian data set (2018) (29)
SOD 1 , ANG , VAPB , TARDBP , and FUS mutations in familial Amyotrophic Lateral Sclerosis : genotype-phenotype correlations (2017) (29)
Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease (2018) (29)
Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (29)
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. (2015) (29)
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP (2007) (28)
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis (2007) (28)
Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations (2006) (28)
Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives. (1995) (28)
Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S. (2012) (28)
Ultrastructural localization of parkin in the rat brainstem, thalamus and basal ganglia (2004) (28)
CYP2D6 Polymorphism and Parkinson's disease susceptibility (1999) (28)
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy (2003) (28)
LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson’s disease patients (2010) (28)
Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity (2012) (28)
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
Localization of the candidate gene D-amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2. (1995) (27)
The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q (1999) (27)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease (2017) (27)
Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers (2015) (27)
Non‐replication of association for six polymorphisms from meta‐analysis of genome‐wide association studies of Parkinson's disease: Large‐scale collaborative study (2009) (27)
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan (2016) (26)
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration (2010) (26)
Molecular Genetic Analysis of Essential Tremor (2002) (26)
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
Differential early subcortical involvement in genetic FTD within the GENFI cohort (2021) (26)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias (2018) (26)
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe (2007) (26)
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation (2016) (25)
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients. (1996) (25)
Edg‐2 in myelin‐forming cells: Isoforms, genomic mapping, and exclusion in Charcot‐Marie‐Tooth disease (1999) (25)
Examining the Reserve Hypothesis in Parkinson's Disease: A Longitudinal Study (2019) (25)
Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers (2016) (25)
Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene (2007) (24)
Survival and severity in dominant cerebellar ataxias (2015) (24)
A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson’s disease (2009) (24)
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias (2011) (24)
The E3 Ubiquitin Ligases TRIM17 and TRIM41 Modulate α-Synuclein Expression by Regulating ZSCAN21. (2018) (24)
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes. (1995) (24)
A genetic cluster of early onset Parkinson's disease in a Colombian population (2006) (24)
No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group. (1996) (24)
Huntington's disease‐like 2 in Brazil—Report of 4 patients (2008) (23)
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease (2015) (23)
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions (1996) (23)
Analysis of ten candidate genes in autism by association and linkage. (2002) (23)
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases (2013) (23)
Parkin Modulates Gene Expression in Control and Ceramide-Treated PC12 Cells (2006) (23)
Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population (2001) (23)
Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females (2009) (23)
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease (2021) (22)
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing (2015) (22)
Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1 (1993) (22)
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families (2017) (22)
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease (2021) (22)
Spinocerebellar ataxia type 10 in the French population (2002) (22)
Spinocerebellar ataxia with sensory neuropathy (SCA25) (2008) (22)
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness (2000) (21)
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease (1995) (21)
Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism (2001) (21)
White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations (2016) (21)
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1 (1997) (21)
Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia (2021) (21)
Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity (2006) (21)
Linkage disequilibrium at the SCA2 locus (1999) (21)
Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations. (2020) (21)
Identification of sixteen novel candidate genes for late onset Parkinson’s disease (2021) (21)
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42) (2010) (21)
Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease (2012) (21)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (21)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (21)
4th Workshop of the European CMT-Consortium – 62nd ENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders. 16–18 October 1998, Soestduinen, The Netherlands (1999) (21)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinsons disease (vol 22, pg 1696, 2013) (2013) (21)
Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R. (2013) (21)
Corrigendum to Using genome-wide complex trait analysis to quantify 'missing heritability' in parkinson's disease [Human Molecular Genetics, 21: 22 (2012) 4996-5009] doi: 10.1093/hmg/dds335] (2013) (21)
Propensity for somatic expansion increases over the course of life in Huntington disease (2021) (20)
Is Differential Regulation of Mitochondrial Transcripts in Parkinson's Disease Related to Apoptosis? (1997) (20)
Posterior cortical atrophy as an extreme phenotype of GRN mutations. (2015) (20)
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China. (2016) (20)
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. (2001) (20)
Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease. (2010) (20)
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. (1998) (20)
Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis (2010) (20)
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia (2018) (20)
A new phenotype linked to SPG27 and refinement of the critical region on chromosome (2006) (20)
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease (2016) (20)
LOW DISEASE RISK IN RELATIVES OF NORTH AFRICAN LRRK2 PARKINSON DISEASE PATIENTS (2010) (20)
BRAIN SPECT PERFUSION OF FRONTOTEMPORAL DEMENTIA ASSOCIATED WITH MOTOR NEURON DISEASE (2007) (19)
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression (2017) (19)
Spinocerebellar degenerations - the ataxias and spastic paraplegias (2007) (19)
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination (2018) (19)
Spinocerebellar ataxias caused by polyglutamine expansions. (2002) (19)
How much does dardarin contribute to Parkinson's disease? (2005) (19)
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function (2018) (19)
Sleep aspects on video‐polysomnography in LRRK2 mutation carriers (2015) (19)
Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation (2016) (19)
LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic (2018) (19)
Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population (2012) (19)
A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype (2009) (19)
Novel VCP mutations expand the mutational spectrum of frontotemporal dementia (2018) (19)
Spinocerebellar ataxia with mental retardation (SCA13) (2008) (18)
Low cancer prevalence in polyglutamine expansion diseases (2017) (18)
CHCHD2 and Parkinson's disease (2015) (18)
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene (2007) (18)
Dopaminergic denervation severity depends on COMT Val158Met polymorphism in Parkinson's disease. (2015) (18)
Is the MC1R variant p.R160W associated with Parkinson's? (2016) (18)
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease (2002) (18)
A preliminary study on early onset schizophrenia and bipolar disorder: large polyglutamine expansions are not involved (1997) (18)
Motor neuron pathology in CANVAS due to RFC1 expansions. (2021) (18)
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease (2019) (18)
The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (2013) (18)
COMT Val158Met Polymorphism Modulates Huntington's Disease Progression (2016) (17)
Establishing the role of rare coding variants in known Parkinson's disease risk loci (2017) (17)
SPG11 – the most common type of recessive spastic paraplegia in Norway? (2008) (17)
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families (2007) (17)
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort (2020) (17)
Automated Categorization of Parkinsonian Syndromes Using Magnetic Resonance Imaging in a Clinical Setting (2020) (17)
Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity (2000) (17)
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. (2008) (17)
Mutation Detection in Machado-Joseph Disease Using Repeat Expansion Detection (1996) (17)
Spastic paraplegia 15: Linkage and clinical description of three Tunisian families (2008) (17)
The gene for Machado–Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q (1994) (17)
Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan (2000) (17)
No effect of the α1-antichymotrypsin A allele in Alzheimer’s disease (1997) (17)
D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus (2000) (17)
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of ∼3 cM on chromosome 14q24.3-q32.2 (1995) (17)
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description (2007) (16)
Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. (1994) (16)
A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism (2003) (16)
Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease (2004) (16)
From Genes to Proteins in Mendelian Parkinson's Disease: An Overview (2009) (16)
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein (2017) (16)
Parkinsonian Symptomatology in a Patient with Type I (Adult) Gaucher’s Disease (1988) (16)
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population (2009) (16)
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis (2019) (16)
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report (2018) (16)
French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis. (1999) (16)
Parkinson disease age of onset GWAS: defining heritability, genetic loci and a-synuclein mechanisms (2018) (16)
Characterization of Recessive Parkinson Disease in a Large Multicenter Study (2020) (15)
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience (2020) (15)
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia. (1999) (15)
FXTAS (2012) (15)
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). (1995) (15)
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene (2006) (15)
Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene. (2003) (15)
α2‐Macroglobulin gene and Alzheimer's disease: Confirmation of association by haplotypes analyses (2000) (15)
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8 (2015) (15)
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease (2021) (15)
Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia (2019) (15)
Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications (2021) (15)
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10 (2010) (15)
The p.Asp216His TOR1A allele effect is not found in the French population (2009) (15)
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias (2018) (15)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information (2020) (14)
Linkage Disequilibrium Analysis of Friedreich’s Ataxia in 140 Caucasian Families: Positioning of the Disease Locus and Evaluation of Allelic Heterogeneity (1993) (14)
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways (2013) (14)
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene (2012) (14)
Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians (2004) (14)
Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis. (1996) (14)
A novel presenilin 1 missense mutation (L153V) segregating with early‐onset autosomal dominant Alzheimer's disease (2000) (14)
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? (2015) (14)
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome (2019) (14)
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1 (1999) (14)
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders (2015) (14)
Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11–Xq21 microsatellites in a new large family: Three new markers are closely linked to the gene (1994) (13)
SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models (2019) (13)
Duplication within chromosome 17 p 11 . 2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type la (13)
LRP10 in α-synucleinopathies (2018) (13)
Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders (2014) (13)
Mutation Analysis of Consanguineous Moroccan Patients with Parkinson’s Disease Combining Microarray and Gene Panel (2017) (13)
LRP10 in α-synucleinopathies (2018) (13)
Metabolic changes in the basal ganglia of patients with Huntington's disease: an in situ hybridization study of cytochrome oxidase subunit I mRNA (2002) (13)
Frequency of the LRRK2 G2019S Mutation in Siblings with Parkinson’s Disease (2007) (13)
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity (2020) (13)
Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus (1997) (13)
Parkin occurs in a stable, non-covalent, ∼110-kDa complex in brain (2008) (13)
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. (2007) (12)
LRRK2: a link between familial and sporadic Parkinson's disease? (2007) (12)
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration (2014) (12)
The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism (2008) (12)
Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype. (2011) (12)
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family (2018) (11)
Corrigendum: Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7 (2015) (11)
Follow-up study of the GIGYF2 gene in French families with Parkinson's disease (2010) (11)
Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease. (1993) (11)
Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality (2013) (11)
Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis. (1993) (11)
Fronto-temporal lobar degeneration: neuropathology in 60 cases (2011) (11)
α-Synuclein Gene and Parkinson's Disease (1998) (11)
Parkin gene related neuronal multisystem disorder (2002) (10)
The impact of rare variants in FUS in essential tremor (2015) (10)
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? (2014) (10)
Polyglutamine expansions and neurodegenerative diseases. (1996) (10)
Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements (2005) (10)
A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation (2014) (10)
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis (2019) (10)
SCA2 is not a major locus for ADCA type I in French families. (1995) (10)
Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson’s disease patients (2022) (10)
Segregation analysis of Alzheimer pedigrees: rare Mendelian dominant mutation(s) explain a minority of early-onset cases. French Alzheimer Collaborative Group. (1996) (10)
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP) (2004) (10)
Of Parkin and Parkinson's: light and dark sides of a multifaceted E3 ubiquitin–protein ligase (2007) (10)
Familial Parkinson's disease and polymorphism at the CYP2D6 locus. (1994) (9)
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations. (2020) (9)
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins (2016) (9)
Spinocerebellar Ataxia 17 and Huntington's Disease-like 4 (2006) (9)
Lack of α-synuclein gene mutations in families with autosomal dominant Parkinson's disease in Russia (2000) (9)
Neurodegeneration in Parkinson's disease: genetics enlightens physiopathology. (2009) (9)
French Parkinson's Disease Genetics Study Group are Y. Agid, (2005) (9)
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease. (2021) (9)
A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease. (2000) (9)
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study (2017) (9)
Characterization of Recessive Parkinson Disease in a Large Multicenter Study. (2020) (9)
Is DRPLA also linked to 14q? (1994) (9)
No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease (2003) (9)
The commercial genetic testing landscape for Parkinson's disease. (2021) (8)
Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study (2021) (8)
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families (1996) (8)
Benson's syndrome or Posterior Cortical Atrophy (2004) (8)
Factors influencing the age at onset in familial frontotemporal lobar dementia (2017) (8)
Exclusion of the Nurr1 gene in autosomal recessive Parkinson’s disease (2002) (8)
Parkinson's disease polygenic risk score is not associated with impulse control disorders: A longitudinal study. (2020) (8)
Unlocking the genetics of paroxysmal kinesigenic dyskinesia. (2011) (8)
Characteristics of familial aggregation in early-onset Alzheimer's disease: evidence of subgroups. (1995) (8)
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes (2021) (8)
Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants (2014) (8)
Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease (2012) (8)
Pantothenate kinase–associated neurodegeneration: Clinical description of 10 patients and identification of new mutations (2011) (8)
Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus. (1993) (8)
A 7.5‐Mb duplication at chromosome 11q21‐11q22.3 is associated with a novel spastic ataxia syndrome (2015) (8)
Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (2015) (8)
The G2019SLRRK2 Mutation in Autosomal Dominant European and North African Parkinson’s Disease is Frequent and its Penetrance is Age-Dependant (2005) (8)
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration–amyotrophic lateral sclerosis patients (2013) (7)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture (2020) (7)
Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism (2021) (7)
Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7) (2011) (7)
Parkin depletion delays motor decline dose-dependently without overtly affecting neuropathology in α-synuclein transgenic mice (2013) (7)
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? (2008) (7)
Erratum: A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease [Human Molecular Genetics 22, 5, 2013, 1039-1049] doi:10.1093/hmg/dds492 (2014) (7)
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies (2003) (7)
The autosomal recessive form of CMT disease linked to 5q31-q33. (1999) (6)
No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24 (2000) (6)
Erratum: Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7 (Nature Structural and Molecular Biology (2014) 21 (955-961)) (2015) (6)
[Clinical and genetic analysis of juvenile parkinsonism in Russia]. (2004) (6)
Primary Progressive Aphasia Associated With GRN Mutations (2021) (6)
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. (2014) (6)
Segregation of ATP10B variants in families with autosomal recessive parkinsonism (2020) (6)
Medical Treatments (2009) (6)
A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain) (2019) (6)
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia (2022) (6)
Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene (2009) (5)
Parkin and Parkinson's: More than homonymy? (2001) (5)
The Autosomal Recessive Form of CMT Disease Linked to 5q31‐q33 (1999) (5)
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency (2020) (5)
COMT Val 158 Met PolymorphismModulates Huntington ' sDisease Progression (2016) (5)
[Autosomal recessive cerebellar ataxias with oculomotor apraxia]. (2006) (5)
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease. (1997) (5)
Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia (1995) (5)
[Parkin, alpha-synuclein and other molecular aspects of Parkinson's disease]. (2002) (5)
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family (2020) (5)
Primary progressive aphasias associated with C9orf72 expansions: Another side of the story (2021) (5)
LRRK2 mutations are uncommon in Turkey (2011) (5)
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations (2021) (5)
Druggable transcriptomic pathways revealed in Parkinson’s patient-derived midbrain neurons (2022) (5)
[Parkinson's disease: what have we learned from the genes responsible for familial forms?]. (2003) (5)
A CTG trinucleotide repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 (2002) (5)
Gender equality in Machado–Joseph disease (1995) (5)
Does the Expression and Epigenetics of Genes Involved in Monogenic Forms of Parkinson’s Disease Influence Sporadic Forms? (2022) (5)
Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive. (2008) (4)
Chapter 14 SPG4, the Most Frequent Hereditary Spastic Paraplegia: Clinical and Genetic Aspects (2007) (4)
No mutation in codon 713 of the amyloid precursor gene in schizophrenic patients. (1993) (4)
Genetics of inherited human epilepsies (2001) (4)
Genome-wide association studies of LRRK2 modifiers of Parkinson's disease (2020) (4)
[Does the ataxo-choreic form of DRPLA exist in Europe? Search of mutation in 120 families]. (1995) (4)
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study (2022) (4)
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease (2022) (4)
Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions (2007) (4)
Temporal order of clinical and biomarker changes in familial frontotemporal dementia (2022) (4)
Allelic association at the D14S43 locus in early onset Alzheimer's disease. French Alzheimer's Disease Collaborative Study Group. (1995) (4)
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis (2020) (3)
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia (2021) (3)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
Dopamine denervation in the functional territories of the striatum: a new MR and atlas-based 123I-FP-CIT SPECT quantification method (2021) (3)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage (2021) (3)
[LRRK2 is a major gene in North African parkinsonism]. (2006) (3)
[Molecular genetics: a new approach of clinical neurosciences]. (1991) (3)
Reduced synaptic activity and dysregulated extracellular matrix pathways are common phenotypes in midbrain neurons derived from sporadic and mutation-associated Parkinson’s disease patients (2022) (3)
Autosomal dominant paroxysmal kinesigenic choreoathetosis: a clinical and genetic study of two families (1998) (3)
Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease (2020) (3)
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. (2021) (3)
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial (2022) (3)
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease (2006) (3)
[Phenotype of familial forms of early-onset Alzheimer's disease linked to chromosome 14. Clinical and neuropsychological characteristics of a large group]. (1995) (3)
Genome-wide association study of Parkinson’s disease progression biomarkers in 12 longitudinal patients’ cohorts (2019) (3)
[LRRK2: a gene belonging to the ROCO family is implicated in the Parkinson's disease]. (2005) (3)
Compensatory Mechanisms Nine Years Before Parkinson's Disease Conversion in a LRRK2 R1441H Family (2021) (3)
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families (2021) (3)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
ACO 2 homozygous missense mutation associated with complicated Hereditary spastic paraplegia (2018) (2)
The Interaction between HLA‐DRB1 and Smoking in Parkinson's Disease Revisited (2022) (2)
Comprar Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias | Stefan-M. Pulst | 9780750675031 | Butterworth Heinemann (2007) (2)
Efficacy of subthalamic nucleus stimulation in C9ORF72 expansion related parkinsonism. (2014) (2)
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. (2022) (2)
ALZH EIMER ’ S DISEASE AND OTHER (2006) (2)
[Genetics of Alzheimer's disease]. (1996) (2)
[Genetics of Parkinson disease]. (1999) (2)
Autosomal dominant cerebellar ataxia type I in Morocco: presence of the SCA1 and SCA3/MJD mutations (1996) (2)
Reply : Is CHCHD 10 Pro 34 Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis ? (2015) (2)
[Current data on the genetic of Parkinson disease]. (2002) (2)
Reply : Are CHCHD 10 mutations indeed associated with familial amyotrophic lateral sclerosis ? (2014) (2)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (2)
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2018) (2)
Negative results Evaluation of the interaction between LRRK 2 and PARK 16 loci in determining risk of Parkinson ’ s disease : analysis of a large multicenter study (2)
ARCHIVES OF NEUROLOGY (2015) (2)
The Cerebellum and its Disorders: Autosomal dominant cerebellar ataxia with progressive pigmentary macular dystrophy (2001) (2)
Autosomal recessive cerebellar ataxias with oculomotor apraxia. (2012) (2)
[What can we learn from genes responsible for familial forms of Parkinson's disease?]. (2006) (2)
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes. (2023) (2)
The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients (2007) (2)
[Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]. (2007) (2)
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 (2022) (1)
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations (2021) (1)
Learning from genetic forms of neurodegeneration (2010) (1)
across RNA cell death gene networks is implicated in the semantic variant of primary progressive aphasia. (2019) (1)
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability (2022) (1)
ACO2 homozygousmissensemutation associated with complicated hereditary spastic paraplegia (1)
No effect of the alpha1-antichymotrypsin A allele in Alzheimer's disease. (1997) (1)
SACS MUTATIONS IN AUTOSOMAL RECESSIVE SPASTIC ATAXIAS (2006) (1)
[Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions]. (2004) (1)
INCIDENCE AND CHARACTERIZATION OF SUPRATENTORIAL FLAIR HYPERINTENSTITIES IN PATIENTS WITH SPORADIC AND GENETIC FRONTOTEMPORAL DEMENTIA (2014) (1)
Spectrum of mutations in the gene for epsilon-sarcoglycan (SGCE) in myoclonus-dystonia syndrome (MDS, DYT11) (2002) (1)
Prevalence and Phenotype of Patients with PARK2 or PARK8 Gene Mutations in an Early-Onset Parkinsonism Brazilian Cohort (2014) (1)
SCA7 (Spinocerebellar Ataxia With Macular Dystrophy) (2010) (1)
Infantile Neuroaxonal Dystrophy Author : Doctor (2004) (1)
Mutations in the GCH1 Gene Are Associated with Parkinson Disease (S17.001) (2014) (1)
Table 1. [Summary of Molecular Genetic Testing Used in Spastic Paraplegia 11]. (2013) (1)
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-q16.1 (2009) (1)
PINK1 and FLNA mutations association: A role for atypical parkinsonism? (2016) (1)
Immune-related genetic enrichment in frontotemporal dementia (2017) (1)
A clinical study of 21 European families with dominant partial epilepsy (1999) (1)
Early cognitive, structural and microstructural changes in c9orf72 presymptomatic carriers before 40 years of age (2018) (1)
Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion (1997) (1)
784 Genetic studies of Alzheimer's disease in 434 French families (1996) (1)
The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia (2022) (1)
HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy (2014) (1)
Consultations in Molecular Diagnostics Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay (2006) (1)
[Parkinson disease: monogenic forms and genetic susceptibility factors]. (1998) (1)
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations (2022) (1)
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families (2021) (1)
Erratum: Complex relationship between Parkin mutations and Parkinson disease (American Journal of Medical Genetics-Neuropsychocetric (2002) 114-(584-591)) (2002) (1)
Phenotype/genotype correlations in Parkinson's disease (2005) (1)
The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (2013) (1)
Parkin depletion delays motor decline dose-dependently without overtly affecting neuropathology in α-synuclein transgenic mice (2013) (1)
Reply: Updated frequency analysis of spinocerebellar ataxia in China. (2018) (1)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519. (2006) (1)
Autosomal dominant late onset ataxia linked to a new locus: Last but not least (2011) (1)
Mutations in the neuroserpin gene are rare in familial dementia (2000) (1)
P3-159 MAPT H1 subhaplotyping in european PD association samples implicates tau splicing in early-onset parkinson’s disease susceptibility (2006) (1)
[Writer's cramp secondary to spinocerebellar ataxia type 7]. (2007) (1)
patient with 7q11 duplication Autism, language delay and mental retardation in a (2007) (1)
Mitochondrial haplogroups and cognitive progression in Parkinson's disease. (2022) (1)
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression (2023) (1)
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? (2022) (1)
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]. (2005) (1)
REPORT ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 (2014) (1)
Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease (2020) (1)
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort (2023) (1)
No e V ect of the á 1-antichymotrypsin A allele in Alzheimer ’ s disease (1998) (1)
Deletions at 22q11.2 in idiopathic Parkinson's disease: A combined analysis of GWAS data (2016) (1)
1.309 Clinical and molecular studies of patients screened for Huntington's disease in a movement disorders clinic from Brazil (2007) (1)
Features of hereditary spastic paraplegias in North African region (2017) (0)
Analysis of the crossover breakpoints in 24 CMTIA and 3 HNPP de novo patients (1997) (0)
KIF1A missense mutations in SPG30: Distinct phenotypes according to the nature of the mutations (2013) (0)
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration (2014) (0)
B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases (2016) (0)
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2022) (0)
Identification of an age-related Parkinson's disease risk factor that regulates sulfur metabolism (2021) (0)
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease (2022) (0)
A molecular biosensor reveals regulation of mitochondrial protein import by the PINK1 kinase-driven Parkin ubiquitin ligase (2016) (0)
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders (2015) (0)
Novel SPG10 Mutation Associated with Hereditary Spastic Paraplegia and Dysautonomia (P05.194) (2012) (0)
SCA3, Machado–Joseph Disease (2010) (0)
High COMT activity is associated with earlier age at onset in PD (2013) (0)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
Origin of parkin gene mutations in Europe (2001) (0)
Alzheimer's disease and other dementias (2006) (0)
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance (2017) (0)
Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study (2023) (0)
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia (2022) (0)
Frequency and Phenotypes Associated with C9ORF72 Repeat Expansion in French FTLD and FTLD-ALS Patients (S54.003) (2012) (0)
Genome-wide determinants of mortality and clinical progression in Parkinson's disease (2022) (0)
Phenotype-genotype correlations in SCA1, SCA2, SCA3/MJD and SCA6 (1997) (0)
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort (2023) (0)
Familias y genes (1998) (0)
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias (2023) (0)
Evolution of Outcome Measures in Spinocerebellar Ataxias (2018) (0)
Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation (2016) (0)
Neurogenetics: Charcot–Marie–Tooth diseases (2012) (0)
A Diagnostic Flowchart For POLG Related Diseases Based On Signs Sensitivity And Specificity (P3.299) (2014) (0)
Multimodal neuroimaging study in presymptomatic GRN mutations carriers (2014) (0)
Monogenic PD in Brazil: a step towards precision medicine. (2021) (0)
Front & Back Matter (2012) (0)
C06 The β-catenin repressor GSK-3β is a modifier of age at onset in Huntington's disease (2010) (0)
Sequence analysis oftheCCG polymorphic region adjacent totheCAG triplet repeatofthe HD gene innormalandHD chromosomes (1995) (0)
Genetic and Phenotypic Characterisation of Autosomal Recessive Parkinson's Disease in a Large Multicentre Cohort (2019) (0)
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein (2017) (0)
New Results - Imaging Markers of the Presymptomatic GRN Disease (2015) (0)
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways (2013) (0)
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability (2019) (0)
Molecular Genetics of Parkinsonism (2010) (0)
A large early-onset Alzheimer`s disease pedigree linked to chromosome 14q24.3 (1994) (0)
Genetic contribution of PGRN, MAPT, VCP, and CHMP2B to the etiology of frontotemporal dementia (2007) (0)
The 17p11.2 rearrangements resulting in CMT1A and HNPP are observed at different frequencies and occur by different sex-dependent mechanisms (1997) (0)
S.11.01 Common pathological pathways in neurodegenerative brain diseases: the genes involved in Parkinson's disease (2006) (0)
Reply : CHCHD 10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis (2015) (0)
Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease (2020) (0)
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2018) (0)
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552. (2006) (0)
[Genetics of extrapyramidal diseases]. (1998) (0)
Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (2015) (0)
LRRK2 ASSOCIATED PARKINSON'S DISEASE: CLINICAL FACTORS BASED ON WORLDWIDE EXPERIENCE (2009) (0)
Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515. (2006) (0)
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers (2016) (0)
Genetics of dominant ataxias (1997) (0)
Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1. (1993) (0)
Reply: Unilateral pallidotomy in a patient with parkinsonism and G2019S LRRK2 mutation (2009) (0)
G.P.377 NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (2015) (0)
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset (2019) (0)
2.109 A novel function of parkin as a transcriptional repressor of the oncogene p53 and its impairment by familial associated Parkinson's disease mutations (2007) (0)
dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 (2005) (0)
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia (2018) (0)
FP31-WE-04 Complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum: a new locus and further genetic heterogeneity (2009) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556. (2006) (0)
Generalized epilepsy with febrile seizures plus (GEFS+): a familial context (2003) (0)
Language impairment in the genetic forms of behavioural variant frontotemporal dementia (2022) (0)
Compositions used to regulate the activity of parkin. (2001) (0)
Nava, Keren, CNV autism, 2013 (2013) (0)
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease (2018) (0)
Combination of Positional Cloning and New Generation Sequencing Identifies 3 Novel Genes in Spastic Paraplegia Involved in Common Metabolic Pathways (P01.205) (2012) (0)
FRONTOTEMPORAL LOBAR DEGENERATIONS, RNAOPATHY LEADING TO PROTEINOPATHIES (2017) (0)
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales (2022) (0)
Parsonage-Turner syndrome (2004) (0)
Sample Size Estimation for Future Therapeutic Trials in SCAs (S12.004) (2012) (0)
Hereditary spastic paraplegias: design of a diagnosis kit using next generation sequencing (2014) (0)
Cognitive composites for genetic frontotemporal dementia: GENFI-Cog (2022) (0)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. (2022) (0)
Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555. (2006) (0)
AtaxiawithVitaminE Deficiency: Refinement ofGenetic Localization andAnalysis ofLinkageDisequilibrium byUsingNew Markersin14Families (1995) (0)
Mitochondrial Morpho-Functional Dysfunction in SPG31 Patients (IN7-1.007) (2012) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516. (2006) (0)
Diverse and Unstable Pentanucleotide Repeats at the Spinocerebellar Ataxia Type 31 (SCA31) Locus in Caucasians (P05.017) (2012) (0)
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers (2023) (0)
The Autosomal Recessive Form of CMT Disease Linked to 5q31‐q33 (1999) (0)
Spinocerebellar Ataxia 13, 14, and 16 (2003) (0)
Association between the LRP1B and APOE loci and the development of Parkinson’s disease dementia (2022) (0)
[Genetics of Alzheimer's disease]. (1998) (0)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
High throughput genotyping: microarray-based resequencing for autosomal-dominant hereditary spastic paraplegia (2009) (0)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4. (2022) (0)
[Cerebellar ataxia with autosomal dominant transmission]. (1994) (0)
Genetic association between Alzheimer's disease and the low density lipoprotein receptor-related protein gene in the French population (2000) (0)
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias (2018) (0)
Differences in survival across monogenic forms of Parkinson's disease. (2023) (0)
Role of LRRK2 in mitochondrial function in Parkinson's disease: Focus on PINK1/Parkin-dependent mitophagy (2018) (0)
Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson’s disease patients (2022) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553. (2006) (0)
Familial Herpes Simplex Encephalitis (2002) (0)
Clinical and Genetic Features of PARKIN-Related Parkinson’s Disease (2007) (0)
M25 Intrafamilial variations of motor nerve conduction in CMT1A patients (1996) (0)
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study (2022) (0)
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice (2023) (0)
Response to Park et al. (2021) (0)
Inflammatory profile in LRRK2-associated prodromal and clinical PD (2016) (0)
Table 2. [Selected SPG11 Benign Variants]. (2013) (0)
The autosomal recessive form of CMT disease linked to 5q31-q33. (1999) (0)
Genetic Frontotemporal Dementia with TDP-43 Inclusions:Distinct Radiological Phenotypes between Patients with PGRN and C9ORF72 Mutations (2014) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554. (2006) (0)
[The genome and neurology. The example of Parkinson's disease]. (2000) (0)
Cerebellar Ataxia and Elevated Cerebrospinal Free Sialic Acid (2009) (0)
The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort (2021) (0)
750 On the genetic contribution of Apolipoprotein E e4 allele in Alzheimer's disease transmission (1996) (0)
Spinocerebellar ataxia type 7 (SCA7) (2020) (0)
Edinburgh Research Explorer Genetic risk of Parkinson disease and progression: (0)
A multitracer dopaminergic PET study of YOPD patients with and without parkin mutations (2009) (0)
The normal parkin sequence (2012) (0)
Gaia Novarino Common Neurodegenerative Disorders Exome Sequencing Links Corticospinal Motor Neuron Disease to (2014) (0)
Additional file 1: Fig. S1. of Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins (2016) (0)
Automated classification of neurodegenerative parkinsonian syndromes using multimodal magnetic resonance imaging in a clinical setting (2020) (0)
Israel-France Binational Symposium on ‘Hereditary Diseases, Molecular Diagnosis and Gene Therapy’ (1995) (0)
Erratum: DNA-triplet repeats and neurologic disease (New England Journal of Medicine (Oct. 17)) (1997) (0)
Thefirst denovo mutation oftheconnexin 32 gene associated withX linked Charcot-Marie- Toothdisease (1998) (0)
Severe Dysphagia as a Presentation of Parkinson’s Disease (2012) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557. (2006) (0)
Role of Parkin in innate immunity: crosstalk between mitochondrial dysfunction and NLRP3 inflammasome signaling (2016) (0)
PARK6 is a major locus in early-onset parkinsonism (2001) (0)
Genetic association between alpha 2-macroglobulin gene and Alzheimer's disease in the French population (2000) (0)
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. (2013) (0)
Genotype-Phenotype correlation in Parkin-Parkinson’s disease (P3-11.012) (2023) (0)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia (2019) (0)
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins (2016) (0)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information (2020) (0)
Spinocerebellar ataxia type 36 (SCA36): Expanding the Genotype and Phenotype (2013) (0)
1.13.3 ROLE OF MENDELIAN GENES IN SPORADIC PD (2012) (0)
G05 High penetrance and frequent severe psychiatric manifestations in patients with 36–38 cag HTT repeats (2018) (0)

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