Alexandra Durr

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Alexandra Durr is affiliated with the following schools: University of California, Berkeley, Sorbonne Nouvelle University Paris 3, Stanford University, Sorbonne University

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Alexandra Durr

Biology

#6993

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#9827

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Molecular Biology

#767

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#784

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Neuroscience

#868

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#904

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Biochemistry

#934

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#1043

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Biology

Alexandra Durr's Degrees

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

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Alexandra Durr's Published Works

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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

Second consensus statement on the diagnosis of multiple system atrophy (2008) (2532)
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study (2008) (1293)
Association between early-onset Parkinson's disease and mutations in the parkin gene. (2000) (1192)
Scale for the assessment and rating of ataxia (2006) (1052)
Clinical and genetic abnormalities in patients with Friedreich's ataxia. (1996) (981)
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (2009) (965)
Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data (2009) (872)
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)
Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease (1998) (770)
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion (1997) (741)
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. (1997) (698)
Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data (2013) (683)
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)
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. (2004) (546)
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond (2010) (543)
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. (2006) (539)
Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis (2011) (530)
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)
Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data (2012) (472)
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)
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (2016) (424)
Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features (1996) (414)
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)
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)
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. (1998) (314)
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)
How much phenotypic variation can be attributed to parkin genotype? (2003) (296)
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)
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (2017) (278)
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease (2011) (278)
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). (1998) (273)
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. (1997) (252)
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)
Diagnosis and treatment of Friedreich ataxia: a European perspective (2009) (230)
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings (2008) (226)
Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression (2007) (225)
Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis (2017) (224)
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. (2003) (220)
Complex relationship between Parkin mutations and Parkinson disease. (2002) (212)
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study (2017) (208)
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. (2009) (207)
Critical Roles for Anterior Insula and Dorsal Striatum in Punishment-Based Avoidance Learning (2012) (206)
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. (2008) (205)
Rapid eye movement sleep disturbances in Huntington disease. (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)
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers (2012) (199)
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)
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. (1995) (195)
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. (2004) (191)
G2019S LRRK2 mutation in French and North African families with Parkinson's disease (2005) (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)
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology (2000) (184)
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism (1998) (181)
Akt is altered in an animal model of Huntington's disease and in patients (2005) (174)
A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia (2010) (174)
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. (2014) (174)
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases (2016) (172)
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)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. (2013) (169)
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 (2011) (167)
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)
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study (2015) (163)
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease (2003) (161)
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data (2015) (159)
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. (2001) (157)
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1 (1995) (156)
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. (2003) (155)
Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients (2006) (152)
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)
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6 (2010) (150)
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)
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data (2013) (147)
Huntington’s disease alters human neurodevelopment (2020) (144)
Are cognitive changes the first symptoms of Huntington’s disease? A study of gene carriers (1998) (143)
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. (2013) (140)
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. (2009) (140)
Mutations in KCND3 cause spinocerebellar ataxia type 22 (2012) (139)
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force (2016) (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)
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. (1994) (132)
Park6‐linked parkinsonism occurs in several european families (2002) (132)
Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotype (2002) (132)
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)
Tapping linked to function and structure in premanifest and symptomatic Huntington disease (2010) (131)
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (2009) (131)
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. (2007) (130)
Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease (2012) (129)
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)
Clinical and molecular features of spinocerebellar ataxia type 6 (1997) (124)
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force (2017) (122)
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. (2013) (122)
Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy (2009) (122)
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6 (2008) (121)
Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy (2011) (120)
Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models* (2011) (120)
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)
Compensation in Preclinical Huntington's Disease: Evidence From the Track-On HD Study (2015) (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)
Neuroendocrine Disturbances in Huntington's Disease (2009) (115)
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. (2016) (113)
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings (2012) (112)
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. (2013) (112)
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)
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia (2006) (110)
Association study between iron-related genes polymorphisms and Parkinson's disease (2002) (109)
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years (2006) (109)
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)
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia (2006) (106)
De novo expansion of intermediate alleles in spinocerebellar ataxia 7. (1998) (105)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study (2016) (103)
Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort (2005) (102)
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. (1995) (102)
Long-term outcome of presymptomatic testing in Huntington disease (2009) (101)
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)
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (2009) (100)
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases (2005) (99)
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia (2016) (99)
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia (2005) (98)
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. (2006) (98)
Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument (2013) (97)
Variants associated with Gaucher disease in multiple system atrophy (2015) (97)
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes (2005) (96)
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene (2012) (96)
Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich's Ataxia Patients: Cellular Model of Pathology (2010) (96)
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family (2001) (95)
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)
Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study (2002) (92)
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. (2000) (92)
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)
The structural correlates of functional deficits in early huntington's disease (2013) (89)
Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias (2002) (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)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
ELOVL5 mutations cause spinocerebellar ataxia 38. (2014) (85)
New mutations in protein kinase Cγ associated with spinocerebellar ataxia type 14 (2005) (85)
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes (2018) (85)
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction (2011) (84)
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16 (2004) (84)
Selective vulnerability of Rich Club brain regions is an organizational principle of structural connectivity loss in Huntington’s disease (2015) (83)
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p (2004) (83)
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings (2012) (83)
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum (2009) (83)
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study (2006) (83)
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes (2019) (83)
KCNC3: phenotype, mutations, channel biophysics—a study of 260 familial ataxia patients (2010) (82)
MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1 (2019) (82)
The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study (2021) (82)
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood (2014) (81)
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies (2017) (80)
Myoclonus–dystonia (2008) (80)
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. (2016) (80)
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)
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. (2015) (79)
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13) (2008) (79)
The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases (1998) (78)
Triheptanoin improves brain energy metabolism in patients with Huntington disease (2015) (77)
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation (2015) (77)
Genetic complexity and Parkinson's disease. (1997) (77)
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias (2010) (76)
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. (1996) (75)
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)
Cyclin D1 expression in mantle cell lymphoma is accompanied by downregulation of cyclin D3 and is not related to the proliferative activity. (1997) (74)
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. (2016) (74)
Brain Regions Showing White Matter Loss in Huntington’s Disease Are Enriched for Synaptic and Metabolic Genes (2017) (73)
Clinical and MRI findings in spinocerebellar ataxia type 5 (1999) (73)
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. (2014) (72)
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 (2013) (72)
Depression comorbidity in spinocerebellar ataxia (2011) (72)
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. (1997) (72)
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. (2015) (71)
A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease (2009) (70)
PRRT2 mutations (2012) (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)
A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. (1994) (68)
Identification of VPS35 mutations replicated in French families with Parkinson disease (2012) (67)
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease (2015) (67)
Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I (1994) (67)
Reliability and factor structure of the Short Problem Behaviors Assessment for Huntington's disease (PBA-s) in the TRACK-HD and REGISTRY studies. (2015) (67)
Hereditary spastic paraplegia: More than an upper motor neuron disease. (2017) (66)
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 (2014) (66)
Striatal degeneration impairs language learning: evidence from Huntington's disease. (2008) (65)
Genetics of movement disorders (1996) (65)
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)
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls (2007) (64)
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression (2013) (64)
Missense CACNA1A mutation causing episodic ataxia type 2. (2001) (64)
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)
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1 (2007) (63)
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28) (2005) (62)
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia (2014) (62)
Self‐rated health status in spinocerebellar ataxia—Results from a European multicenter study (2010) (61)
Predominant dystonia with marked cerebellar atrophy (2006) (61)
A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia. (2015) (60)
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. (2011) (60)
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. (2007) (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)
SYNE1 mutations in autosomal recessive cerebellar ataxia. (2013) (59)
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction (2013) (59)
In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7 (2015) (59)
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. (2003) (58)
DYT1 mutation in French families with idiopathic torsion dystonia. (1999) (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)
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson’s disease (2009) (56)
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5 (2018) (56)
Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database. (2013) (56)
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex (2018) (56)
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. (2015) (56)
Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study (2010) (55)
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. (2007) (55)
CAG/CTG repeat expansions at the Huntington’s disease–like 2 locus are rare in Huntington’s disease patients (2002) (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)
Association between caffeine intake and age at onset in Huntington's disease (2013) (55)
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. (2015) (54)
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A (2004) (54)
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases (2003) (54)
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal‐Recessive Juvenile‐Onset Parkinson's Disease (2016) (54)
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism (2003) (54)
LINGO1 polymorphisms are associated with essential tremor in Europeans (2010) (53)
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia (2015) (53)
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study. (2014) (53)
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice (2014) (53)
Altered Dopamine and Serotonin Metabolism in Motorically Asymptomatic R6/2 Mice (2011) (53)
Neurofilament light protein in blood predicts regional atrophy in Huntington disease (2018) (53)
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study (2018) (52)
Homozygosity in Huntington’s disease (1999) (52)
The impact of occipital lobe cortical thickness on cognitive task performance: An investigation in Huntington's Disease (2015) (52)
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. (2014) (52)
Frequency of the DYT1 mutation in primary torsion dystonia without family history. (2000) (52)
[18F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations (2000) (52)
The genetic nomenclature of recessive cerebellar ataxias (2018) (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)
Cerebellar abnormalities in Huntington's disease: A role in motor and psychiatric impairment? (2014) (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)
Operationalizing compensation over time in neurodegenerative disease (2017) (49)
The neuroanatomy of subthreshold depressive symptoms in Huntington's disease: a combined diffusion tensor imaging (DTI) and voxel-based morphometry (VBM) study (2013) (48)
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. (2010) (48)
SPG11 spastic paraplegia (2009) (47)
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)
Prenatal testing for Huntington's disease: a European collaborative study (2002) (47)
Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease? (2008) (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)
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)
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. (2006) (45)
In vivo characterization of white matter pathology in premanifest huntington's disease (2018) (45)
Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians (2011) (45)
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice (2020) (45)
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease (2010) (45)
Deletion of the parkin and PACRG gene promoter in early‐onset parkinsonism (2007) (44)
Abnormal response to cortical activation in early stages of Huntington disease (2012) (44)
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion (2014) (44)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism (2013) (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)
Fecundity in women with multiple sclerosis: an observational mono-centric study (2015) (43)
State of the art review: Molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis (2003) (43)
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism (2003) (43)
Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations (2009) (43)
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations (2007) (42)
Familial essential tremor and idiopathic torsion dystonia are different genetic entities (1993) (42)
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. (2013) (41)
Quality of life in Huntington's disease: a comparative study investigating the impact for those with pre-manifest and early manifest disease, and their partners. (2013) (40)
Evaluation of multi-modal, multi-site neuroimaging measures in Huntington's disease: Baseline results from the PADDINGTON study☆ (2012) (40)
Correction of inter-scanner and within-subject variance in structural MRI based automated diagnosing (2014) (40)
Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington’s disease (2017) (40)
Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease (2004) (39)
Exonic deletions of FXN and early-onset Friedreich ataxia. (2012) (39)
Autosomal dominant cerebellar ataxias. (2011) (39)
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? (2012) (39)
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease (2019) (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)
Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view (2018) (38)
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations (2020) (38)
New autosomal recessive cerebellar ataxias with oculomotor apraxia (2005) (37)
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)
Exhaustive analysis of BH 4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia (2009) (37)
The Huntington disease protein accelerates breast tumour development and metastasis through ErbB2/HER2 signalling (2013) (36)
A Computational Cognitive Biomarker for Early-Stage Huntington’s Disease (2016) (36)
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class (2003) (36)
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease (2005) (36)
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 (2019) (35)
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. (2006) (35)
Rituximab in chronic inflammatory demyelinating polyradiculoneuropathy with associated diseases (2018) (34)
Clinical and genetic aspects of spinocerebellar degeneration (2000) (34)
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia (2013) (34)
Visuospatial Processing Deficits Linked to Posterior Brain Regions in Premanifest and Early Stage Huntington’s Disease (2016) (34)
Mental deficiency in three families with SPG4 spastic paraplegia (2008) (34)
Longitudinal Diffusion Tensor Imaging Shows Progressive Changes in White Matter in Huntington's Disease. (2015) (34)
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21 (2007) (34)
Diagnosis of “sporadic” Huntington's disease (1995) (34)
The parkin gene and its phenotype (2001) (34)
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). (2009) (33)
Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients (2020) (33)
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype (2011) (33)
Microglia-neuron interaction at nodes of Ranvier depends on neuronal activity through potassium release and contributes to remyelination (2021) (33)
Neuropsychiatry and White Matter Microstructure in Huntington’s Disease (2015) (33)
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (2021) (33)
A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3 (2007) (33)
Atypical Gilles de la Tourette Syndrome With β-Mannosidase Deficiency (2006) (32)
Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study. (2003) (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)
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. (2006) (32)
A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia (2018) (32)
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity (2014) (32)
A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. (2009) (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)
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)
White matter predicts functional connectivity in premanifest Huntington's disease (2017) (31)
Heterozygous OPA1 mutations in Behr syndrome. (2011) (31)
A novel locus for autosomal recessive spastic ataxia on chromosome 17p (2007) (30)
Nonataxia symptoms in Friedreich Ataxia (2018) (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)
Association of CAG Repeats With Long-term Progression in Huntington Disease. (2019) (30)
Mutations in TGM6 induce the unfolded protein response in SCA35 (2017) (29)
Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder. (2015) (29)
Corpus callosal atrophy in premanifest and early Huntington's disease. (2013) (29)
Recommendations for the Use of Automated Gray Matter Segmentation Tools: Evidence from Huntington’s Disease (2017) (29)
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis (2007) (28)
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (28)
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study (2021) (28)
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP (2007) (28)
Deep brain stimulation of the internal pallidum in Huntington’s disease patients: clinical outcome and neuronal firing patterns (2016) (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)
CYP2D6 Polymorphism and Parkinson's disease susceptibility (1999) (28)
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (28)
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 (2018) (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)
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe (2007) (26)
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan (2016) (26)
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24 (2009) (26)
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias (2018) (26)
Validation of plasma branched chain amino acids as biomarkers in Huntington disease. (2011) (25)
Structural and functional brain network correlates of depressive symptoms in premanifest Huntington's disease (2017) (25)
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation (2016) (25)
8OHdG is not a biomarker for Huntington disease state or progression (2013) (25)
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study (2020) (25)
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes. (1995) (24)
Survival and severity in dominant cerebellar ataxias (2015) (24)
Testing a longitudinal compensation model in premanifest Huntington’s disease (2018) (24)
Tremor-spectrum in spinocerebellar ataxia type 3 (2012) (24)
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias (2011) (24)
Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia (2002) (24)
Testing a longitudinal compensation model in premanifest Huntington’s disease (2018) (24)
Beyond COVID-19: DO MS/NMO-SD patients treated with anti-CD20 therapies develop SARS-CoV2 antibodies? (2020) (24)
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases (2013) (23)
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia (2018) (23)
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions (1996) (23)
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families (2017) (22)
Spinocerebellar ataxia type 10 in the French population (2002) (22)
A randomized, double‐blind, placebo‐controlled trial evaluating cysteamine in Huntington's disease (2017) (22)
Mapping Cortico-Striatal Connectivity onto the Cortical Surface: A New Tractography-Based Approach to Study Huntington Disease (2013) (22)
Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1 (1993) (22)
Spinocerebellar ataxia with sensory neuropathy (SCA25) (2008) (22)
Longitudinal changes in functional connectivity of cortico‐basal ganglia networks in manifests and premanifest huntington's disease (2016) (22)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (21)
Cross-sectional and longitudinal voxel-based grey matter asymmetries in Huntington's disease (2017) (21)
Linkage disequilibrium at the SCA2 locus (1999) (21)
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42) (2010) (21)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (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)
Short-interval observational data to inform clinical trial design in Huntington's disease (2015) (21)
Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia (2021) (21)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinsons disease (vol 22, pg 1696, 2013) (2013) (21)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (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)
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1 (1997) (21)
Propensity for somatic expansion increases over the course of life in Huntington disease (2021) (20)
Ataxie spastique autosomique récessive de Charlevoix-Saguenay : étude d’une famille et revue de la littérature (2008) (20)
Fatal familial insomnia presenting as psychosis in an 18-year-old man (2006) (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)
Onset features and time to diagnosis in Friedreich’s Ataxia (2020) (20)
A new phenotype linked to SPG27 and refinement of the critical region on chromosome (2006) (20)
LOW DISEASE RISK IN RELATIVES OF NORTH AFRICAN LRRK2 PARKINSON DISEASE PATIENTS (2010) (20)
CAG repeat size in Huntingtin alleles is associated with cancer prognosis (2016) (19)
Personality and Neuropsychological Profiles in Friedreich Ataxia (2018) (19)
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3 (2021) (19)
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function (2018) (19)
Spinocerebellar ataxias caused by polyglutamine expansions. (2002) (19)
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression (2017) (19)
Low cancer prevalence in polyglutamine expansion diseases (2017) (18)
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease (2002) (18)
Inherited ataxias. (2012) (18)
The impact of single-nucleotide polymorphisms (SNPs) in OGG1 and XPC on the age at onset of Huntington disease. (2013) (18)
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene (2007) (18)
Spinocerebellar ataxia with mental retardation (SCA13) (2008) (18)
The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (2013) (18)
Motor neuron pathology in CANVAS due to RFC1 expansions. (2021) (18)
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)
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56 (2018) (17)
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases (2016) (17)
COMT Val158Met Polymorphism Modulates Huntington's Disease Progression (2016) (17)
D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus (2000) (17)
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. (1998) (17)
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. (2017) (17)
Apathy predicts rate of cognitive decline over 24 months in premanifest Huntington's disease (2020) (17)
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families (2007) (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)
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. (2008) (17)
Genetic testing for the spastic paraplegias: drowning by numbers. (2008) (16)
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description (2007) (16)
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein (2017) (16)
French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis. (1999) (16)
Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease (2004) (16)
Friedreich's ataxia: treatment within reach (2002) (16)
Natural variation in sensory‐motor white matter organization influences manifestations of Huntington's disease (2016) (16)
The p.Asp216His TOR1A allele effect is not found in the French population (2009) (15)
FXTAS (2012) (15)
Missense CACNA 1 A Mutation Causing Episodic Ataxia Type 2 (2001) (15)
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10 (2010) (15)
A liminal stage after predictive testing for Huntington disease (2017) (15)
Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia (2019) (15)
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). (1995) (15)
Natural biological variation of white matter microstructure is accentuated in Huntington's disease (2018) (15)
Visual Working Memory Impairment in Premanifest Gene-Carriers and Early Huntington's Disease. (2012) (15)
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene (2006) (15)
Disease Onset in Huntington's Disease: When Is the Conversion? (2021) (14)
Large‐scale brain network abnormalities in Huntington's disease revealed by structural covariance (2016) (14)
Executive Impairment Is Associated with Unawareness of Neuropsychiatric Symptoms in Premanifest and Early Huntington’s Disease (2018) (14)
Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements (2017) (14)
Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians (2004) (14)
Effectiveness of Anti-Psychotics and Related Drugs in the Huntington French-Speaking Group Cohort (2014) (14)
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene (2012) (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)
Spastic Paraplegia 4 (2012) (14)
Prenatal testing in Huntington disease: after the test, choices recommence (2016) (13)
Frequency of the LRRK2 G2019S Mutation in Siblings with Parkinson’s Disease (2007) (13)
LRP10 in α-synucleinopathies (2018) (13)
Is non-recognition of choreic movements in Huntington disease always pathological? (2013) (13)
Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France. (2015) (12)
SPATAX- European Network for Hereditary Spinocerebellar Degenerative Disorders (2003) (12)
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know (2019) (12)
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency. (2006) (12)
An alternative mechanism of early nodal clustering and myelination onset in GABAergic neurons of the central nervous system (2019) (12)
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) (2019) (12)
Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis (2017) (12)
LRRK2: a link between familial and sporadic Parkinson's disease? (2007) (12)
Parasympathetic activity in Friedreich's ataxia☆ (1996) (12)
The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism (2008) (12)
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. (2007) (12)
Clinical and genetic update of hereditary spastic paraparesis. (2020) (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)
Combined cerebral atrophy score in Huntington's disease based on atlas-based MRI volumetry: Sample size calculations for clinical trials. (2019) (11)
Altered Intracortical T1-Weighted/T2-Weighted Ratio Signal in Huntington’s Disease (2018) (11)
The presymptomatic phase of Huntington disease. (2012) (11)
Follow-up study of the GIGYF2 gene in French families with Parkinson's disease (2010) (11)
Rare inherited diseases merit disease-specific trials (2015) (11)
Les tests présymptomatiques en neurogénétique (2005) (11)
Apathy and atrophy of subcortical brain structures in Huntington's disease: A two-year follow-up study (2018) (11)
The impact of rare variants in FUS in essential tremor (2015) (10)
Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias (2013) (10)
Les ataxies crbelleuses autosomiques rcessives avec apraxie oculomotrice (2006) (10)
COVID-19 infection in NMO/SD patients: a French survey (2020) (10)
SCA2 is not a major locus for ADCA type I in French families. (1995) (10)
Analysis of the Striato-Thalamo-Cortical Connectivity on the Cortical Surface to Infer Biomarkers of Huntington's Disease (2010) (10)
Patients with MS treated with immunosuppressive agents: Across the COVID-19 spectrum (2020) (10)
Anticiper le handicap. Les risques psychologiques des tests génétiques (2014) (10)
Quantifiable evaluation of cerebellar signs in children (2015) (10)
Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy (2018) (10)
Friedreich's ataxia: treatment within reach. (2002) (9)
Is DRPLA also linked to 14q? (1994) (9)
Spinocerebellar ataxia 13 and 25. (2012) (9)
PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study (2020) (9)
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies (2016) (9)
Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus. (1993) (8)
Exclusion of the Nurr1 gene in autosomal recessive Parkinson’s disease (2002) (8)
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective (2022) (8)
Detection of Motor Changes in Huntington's Disease Using Dynamic Causal Modeling (2015) (8)
A 7.5‐Mb duplication at chromosome 11q21‐11q22.3 is associated with a novel spastic ataxia syndrome (2015) (8)
Implication of folate deficiency in CYP2U1 loss of function (2021) (8)
Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease (2012) (8)
Pick complex: too simple?; Commentary on “Pick complex and Pick's disease: the nosology of frontal lobe dementia, primary progressive aphasia, and corticobasal ganglionic degeneration” by A. Kertesz * (1996) (8)
Contemporary Dance Practice Improves Motor Function and Body Representation in Huntington's Disease: A Pilot Study. (2019) (8)
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families (1996) (8)
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. (2021) (8)
The G2019SLRRK2 Mutation in Autosomal Dominant European and North African Parkinson’s Disease is Frequent and its Penetrance is Age-Dependant (2005) (8)
Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (2015) (8)
The potential of composite cognitive scores for tracking progression in Huntington's disease. (2012) (8)
Design optimization for clinical trials in early‐stage manifest Huntington's disease (2017) (8)
Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants (2014) (8)
Genetic lesions in mantle cell lymphoma. (1997) (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)
Efficacy and Safety of Fingolimod in Daily Practice: Experience of an Academic MS French Center (2017) (7)
Recent advances in understanding hereditary spastic paraplegias and emerging therapies (2021) (7)
Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia (2018) (7)
Are the French neurology residents satisfied with their training? (2015) (7)
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? (2008) (7)
Q-motor – Quantitative motor assessments: Potential novel endpoints for clinical trials in pre-manifest and symptomatic Huntington's disease – 36 months longitudinal results from the multicenter TRACK-HD study (2013) (7)
Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent (2018) (7)
SCA13 causes dominantly inherited non-progressive myoclonus ataxia. (2017) (7)
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins (2019) (7)
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia (2022) (6)
Predictors of Left Ventricular Dysfunction in Friedreich’s Ataxia in a 16-Year Observational Study (2019) (6)
Deciphering the natural history of SCA7 in children (2020) (6)
Stability and sensitivity of structural connectomes: effect of thresholding and filtering and demonstration in neurodegeneration (2018) (6)
Challenges of switching towards anti-CD20 monoclonal antibodies in RR-MS: A monocentric study. (2021) (6)
REM sleep disturbances in huntington disease (2007) (6)
Medical Treatments (2009) (6)
Apports de la spectroscopie par résonance magnétique nucléaire des fluides dans l’étude de maladies métaboliques et neurodégénératives (2007) (6)
No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24 (2000) (6)
An in-frame deletion in BICD2 associated with a non-progressive form of SMALED (2018) (6)
Composite UHDRS Correlates With Progression of Imaging Biomarkers in Huntington's Disease (2021) (6)
Medication Use in Early-HD Participants in Track-HD: an Investigation of its Effects on Clinical Performance (2016) (6)
Gender equality in Machado–Joseph disease (1995) (5)
[Autosomal recessive cerebellar ataxias with oculomotor apraxia]. (2006) (5)
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations (2021) (5)
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation (2014) (5)
Significance of NT-proBNP and High-Sensitivity Troponin in Friedreich Ataxia (2020) (5)
Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia (2010) (5)
Multiparametric characterization of white matter alterations in early stage Huntington disease (2021) (5)
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56 (2020) (5)
Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia (1995) (5)
Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades (2020) (5)
Mutations in TGM 6 induce the unfolded protein response in SCA 35 (2017) (5)
D22 Compensation in preclinical huntington’s disease: evidence from the track-on HD study (2016) (5)
Altered Intracortical T 1 -Weighted/T 2 -Weighted Ratio Signal in Huntington’s Disease (2018) (5)
Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene (2009) (5)
Parasympathetic activity in Friedrich's ataxia. (1996) (5)
COMT Val 158 Met PolymorphismModulates Huntington ' sDisease Progression (2016) (5)
Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (4)
Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions (2007) (4)
Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (4)
Questioning the causality of HTT CAG-repeat expansions in FTD/ALS (2021) (4)
Chapter 14 SPG4, the Most Frequent Hereditary Spastic Paraplegia: Clinical and Genetic Aspects (2007) (4)
PAW36 Oculomotor deficits in presymptomatic and early Huntington's disease and their structural brain correlates (2010) (4)
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia (2022) (4)
Spinocerebellar ataxia type 28 (2020) (4)
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1 (2022) (4)
Fecundity in women with multiple sclerosis: An observational monocentric study (2015) (4)
Neurofilaments as blood biomarkers at the preataxic and ataxic stage of spinocerebellar ataxia type 3: a cross-species analysis in humans and mice (2019) (4)
de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia (2020) (4)
Enjeux de la médecine prédictive en neurogénétique : quelle place pour l'homme ? (2009) (4)
Amyotrophie de type Charcot-Marie-Tooth associée à une ataxie cérébelleuse autosomique récessive révélatrice d’une mutation du gène de l’aprataxine (2005) (4)
Chorea and Huntington's desease (1997) (4)
[Does the ataxo-choreic form of DRPLA exist in Europe? Search of mutation in 120 families]. (1995) (4)
Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive. (2008) (4)
Pregnancy and multiple sclerosis: 2022 recommendations from the French multiple sclerosis society (2022) (3)
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial (2022) (3)
Longitudinal Structural MRI in Neurologically Healthy Adults (2020) (3)
F14 8OHdG is not a biomarker for Huntington's disease; lessons for future biomarker studies (2012) (3)
A neuroscientific approach to increase gender equality (2019) (3)
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins (2019) (3)
Genetics in hereditary spastic paraplegias: Essential but not enough (2021) (3)
Microglia-neuron communication at nodes of Ranvier depends on neuronal activity through potassium release and contributes to myelin repair (2020) (3)
[Genetic counseling for adults: the risk of late-onset inherited diseases]. (2011) (3)
Oral mobility reflects rate of progression in advanced Friedreich’s ataxia (2019) (3)
[LRRK2 is a major gene in North African parkinsonism]. (2006) (3)
Génétique de la maladie de Parkinson (1999) (3)
Corrigendum to “Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6” [NeuroImage 49 (2010) 158–168] (2010) (3)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
Autosomal recessive ataxias: a new gene - aprataxin - responsible for ataxia-ocular apraxia 1, and a new locus on 9q34 (2002) (3)
Autosomal recessive cerebellar ataxias with oculomotor apraxia. (2012) (2)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (2)
The Cerebellum and its Disorders: Autosomal dominant cerebellar ataxia with progressive pigmentary macular dystrophy (2001) (2)
ARCHIVES OF NEUROLOGY (2015) (2)
“A de novo X;8 translocation in a patient with psychomotor retardationand congenital cerebellar hypoplasia creates a PTK2-THOC2 fusion gene and knocks down THOC2 expression by transcriptional interference” (2012) (2)
[Genetics of Parkinson disease]. (1999) (2)
Pregnancy and neuromyelitis optica spectrum disorders: 2022 recommendations from the French Multiple Sclerosis Society (2022) (2)
Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study (2021) (2)
[Genetic testing in asymptomatic minors: a survey among French geneticists]. (2010) (2)
[Current data on the genetic of Parkinson disease]. (2002) (2)
ICIEM 2013 12th International Congress of Inborn Errors of Metabolism (2013) (2)
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3 (2022) (2)
Image Collation: Matching illustrations in manuscripts (2021) (2)
Le choix du diagnostic préimplantatoire : un attracteur de l’ambivalence du désir d’enfant dans les maladies génétiques à révélation tardive (2017) (2)
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15 (2022) (2)
An overview of prenatal testing for Huntington’s disease in six European countries (2002) (2)
Prognostic value of longitudinal strain and ejection fraction in Friedreich ataxia. (2021) (2)
Clinically meaningful MR endpoints sensitive to preataxic SCA1 and SCA3 (2022) (2)
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. (2022) (2)
Genetic testing for the spastic paraplegias (2008) (2)
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease (2020) (2)
LRRK2, gène majeur de la maladie de Parkinson dans les pays du Maghreb (2006) (2)
The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients (2007) (2)
Faculty Opinions recommendation of Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice. (2018) (2)
Autosomal dominant cerebellar ataxia type I in Morocco: presence of the SCA1 and SCA3/MJD mutations (1996) (2)
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes. (2023) (2)
[Predictive testing: presymptomatic diagnosis in neurogenetic disorders]. (2005) (2)
A cloning strategy for identification of genes containing trinucleotide repeat expansions. (2001) (2)
[Huntington disease: Neurodegeneration rooted in brain development?] (2021) (2)
Thérapie par ARN anti-sens dans la maladie de Huntington (2019) (2)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (2)
[Asymptomatic "child" of the parent affected by Huntington disease]. (2000) (1)
Poster 9: The Short Version of the Problem Behaviours Assessment for HD (PBA-s): An Item Response Analysis Using Data from the TRACK-HD Study (2010) (1)
K02 The neuroanatomy of depression: evidence from Huntington's disease (2012) (1)
Validating Automated Segmentation Tools in the Assessment of Caudate Atrophy in Huntington’s Disease (2021) (1)
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? (2022) (1)
-1-Progression characteristics in Friedreich’s Ataxia: 4-year analysis of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) (2021) (1)
[Chorea and Huntington's disease]. (1997) (1)
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 (2022) (1)
Erratum: Complex relationship between Parkin mutations and Parkinson disease (American Journal of Medical Genetics-Neuropsychocetric (2002) 114-(584-591)) (2002) (1)
Table 1. [Summary of Molecular Genetic Testing Used in Spastic Paraplegia 11]. (2013) (1)
POMD07 Quantitative assessment of biological and clinical manifestations of Huntington's disease before and after diagnosis—the TRACK-HD study (2010) (1)
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-q16.1 (2009) (1)
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations (2021) (1)
Faculty Opinions recommendation of Motor neuron degeneration correlates with respiratory dysfunction in SCA1. (2018) (1)
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases (2022) (1)
Using surface connectivity atlases to measure striato-cortical " disconnection rate " in Huntington disease (2010) (1)
SACS MUTATIONS IN AUTOSOMAL RECESSIVE SPASTIC ATAXIAS (2006) (1)
La maladie de Parkinson due aux mutations de la parkine (2000) (1)
Reply: Updated frequency analysis of spinocerebellar ataxia in China. (2018) (1)
Autosomal dominant late onset ataxia linked to a new locus: Last but not least (2011) (1)
Multiple cervical dissections after Rituximab. (2020) (1)
E04 Cortical Thinning Of The Occipital Lobe In Huntington’s Disease And Associations With Cognitive Performance (2014) (1)
Reply letter to Jinnah “Locus pocus” and Albanese “Complex dystonia is not a category in the new 2013 consensus classification”: Necessary evolution, no magic! (2016) (1)
Astrocytic tumor with large cells and worrisome features in two patients with tuberous sclerosis: drastically different diagnoses and prognoses. (2017) (1)
Distribution of the functional atrophy in the striatum territory of Huntington ' s patients (2010) (1)
Les paraparésies spastiques héréditaires (2010) (1)
Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion (1997) (1)
Development and validation of a new ataxia rating scale: Scale for the Assessment and Rating of Ataxia (SARA) (2005) (1)
C08 Caffeine is a modifier of age at onset in Huntington's disease (2010) (1)
Faculty Opinions recommendation of A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. (2018) (1)
Abstracts of The Movement Disorder Society's Thirteenth International Congress of Parkinson's Disease and Movement Disorders. June 8-10, 2009. (2009) (1)
Spectrum of mutations in the gene for epsilon-sarcoglycan (SGCE) in myoclonus-dystonia syndrome (MDS, DYT11) (2002) (1)
Connectivity-based delineation of basal ganglia using hierarchical classification (2010) (1)
[Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience]. (2007) (1)
F24 Differences in companion and subject ratings of subjects' behaviour using the frontal systems behaviour scale (FrSBe)- findings from the track-hd study (2010) (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)
Visuospatial Processing De fi cits Linked to Posterior Brain Regions in Premanifest and Early Stage Huntington ’ s Disease (2017) (1)
The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (2013) (1)
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]. (2005) (1)
Survival Endpoints in Premanifest Huntington's Disease Trials: 7 Years of TRACK (2018) (1)
F04 Quality of life in Huntington's disease: a comparative study investigating the impact on spouses of those with premanifest and early disease (2010) (1)
Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar Ataxias (2022) (1)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519. (2006) (1)
N04 Anaplerotic Therapy Using Triheptanoin Improves Brain Energy Metabolism In Patients With Huntington Disease (2014) (1)
P3-159 MAPT H1 subhaplotyping in european PD association samples implicates tau splicing in early-onset parkinson’s disease susceptibility (2006) (1)
Faculty Opinions recommendation of Resting-state functional connectivity and cognitive dysfunction correlations in spinocerebelellar ataxia type 6 (SCA6). (2018) (1)
Phenotype/genotype correlations in Parkinson's disease (2005) (1)
Prediction of the disease course in Friedreich ataxia (2022) (1)
Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing (2022) (1)
The inherited cerebellar ataxias: an update (2022) (1)
REPORT ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 (2014) (1)
Mitochondrial Morpho-Functional Dysfunction in SPG31 Patients (IN7-1.007) (2012) (0)
F21 Cag-dependent huntington’s disease patterns over decades: the track-hd and track-on studies (2018) (0)
0161: Usefulness of plasma high sensitive troponin t and Nt-proBNP in the diagnosis of cardiopathy in Friedreich ataxia (2016) (0)
Faculty Opinions recommendation of mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5. (2021) (0)
2018: Year in Review and Message from the Editors to Our Reviewers (2019) (0)
JAMA Neurology Peer Reviewers in 2016. (2017) (0)
Therapeutic approach in Huntington's disease. (2008) (0)
Structural and Functional Brain Network Correlates of Depressive Symptoms in Premanifest Huntingtons Disease (2017) (0)
Faculty Opinions recommendation of Promoter variation and expression levels of inflammatory genes IL1A, IL1B, IL6 and TNF in blood of spinocerebellar ataxia type 3 (SCA3) patients. (2018) (0)
G01 Evaluation of multi-modal, multi-site imaging measures in Huntington's disease: baseline results from the PADDINGTON study (2012) (0)
Validation Of A Functional Biomarker Of Brain Energy Deficit In Huntington Disease (P1.011) (2014) (0)
Iconographies supplémentaires de l'article : Hereditary spastic paraplegia: More than an upper motor neuron disease (2017) (0)
Origin of parkin gene mutations in Europe (2001) (0)
Progressive alterations in white matter microstructure across the timecourse of Huntington's disease (2023) (0)
Faculty Opinions recommendation of Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons. (2021) (0)
G05 High penetrance and frequent severe psychiatric manifestations in patients with 36–38 cag HTT repeats (2018) (0)
Faculty Opinions recommendation of Targeting potassium channels to treat cerebellar ataxia. (2018) (0)
Faculty Opinions recommendation of Physical therapy intervention with a low frequency of exercise for a patient with a complicated form of hereditary spastic paraplegia: a case report. (2021) (0)
Faculty Opinions recommendation of Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice. (2018) (0)
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities (2022) (0)
Faculty Opinions recommendation of The effect of repetitive transcranial magnetic stimulation on motor symptoms in hereditary spastic paraplegia. (2021) (0)
Third Annual Huntington Disease Clinical Research Symposium (2011) (0)
Erratum: DNA-triplet repeats and neurologic disease (New England Journal of Medicine (Oct. 17)) (1997) (0)
Faculty Opinions recommendation of SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage. (2021) (0)
Faculty Opinions recommendation of Resveratrol protects purkinje neurons and restores muscle activity in rat model of cerebellar ataxia. (2018) (0)
Faculty Opinions recommendation of Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4). (2021) (0)
E02 Standardising and observing atrophy and cognitive patterns across the lifetime of Huntington’s disease using data from the HD-YAS and TRACK-HD and TrackOn-HD studies (2022) (0)
Faculty Opinions recommendation of CSF neurofilament proteins as diagnostic and prognostic biomarkers for amyotrophic lateral sclerosis. (2018) (0)
Two RFC1 splicing variants in CANVAS. (2022) (0)
Spinocerebellar ataxia type 7 (SCA7) (2020) (0)
E11 Association Between Brain Volume and White Matter Microstructure in Healthy Controls (2014) (0)
Response to Park et al. (2021) (0)
Motor neuron involvement threatens survival in spinocerebellar ataxia type 1 (2023) (0)
Faculty Opinions recommendation of New biallelic GBA2 variant in a patient with SPG46. (2021) (0)
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4. (2022) (0)
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis. (2023) (0)
Faculty Opinions recommendation of Efficacy of a combined treatment of botulinum toxin and intensive physiotherapy in hereditary spastic paraplegia. (2021) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516. (2006) (0)
Antisense therapies in neurological diseases. (2021) (0)
Diverse and Unstable Pentanucleotide Repeats at the Spinocerebellar Ataxia Type 31 (SCA31) Locus in Caucasians (P05.017) (2012) (0)
Predictive and prenatal testing for autosomal dominant cerebellar ataxias (2002) (0)
Faculty Opinions recommendation of Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia. (2021) (0)
Gaia Novarino Common Neurodegenerative Disorders Exome Sequencing Links Corticospinal Motor Neuron Disease to (2014) (0)
Faculty Opinions recommendation of Management of hereditary spastic paraplegia: A systematic review of the literature. (2021) (0)
Pre‐Clinical HD (2009) (0)
PNPLA 6 seed analysis in more than 500 exomes of index patients with ataxia , hereditary spastic paraplegia and Charcot – Marie – Tooth disease (2014) (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)
Novel SPG10 Mutation Associated with Hereditary Spastic Paraplegia and Dysautonomia (P05.194) (2012) (0)
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (0)
Hereditary spastic paraplegias: design of a diagnosis kit using next generation sequencing (2014) (0)
Using tractography to infer Basal ganglia's functional subterritories distribution change in Huntington disease (2014) (0)
Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (2015) (0)
Reduced Neurite Density in Pre-manifest Huntington’s Disease Population detected by NODDI (2015) (0)
Phenotype-genotype correlations in SCA1, SCA2, SCA3/MJD and SCA6 (1997) (0)
Faculty Opinions recommendation of Caffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway. (2018) (0)
G07 Reliability of diffusion tensor imaging measures (2012) (0)
Faculty Opinions recommendation of Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. (2021) (0)
P903Is left ventricular longitudinal strain a good pronostic factor in friedreich ataxia? (2019) (0)
F15 Clinical profile of small expansion carriers with 36–38 CAG HTT repeats: a multicentric retrospective study (2022) (0)
H46 Huntington and dance (2018) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554. (2006) (0)
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
Third Annual Huntington Disease Clinical Research Symposium : Organized by the Huntington Study Group (Huntington Study Group Abstracts) (2010) (0)
Faculty Opinions recommendation of Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. (2018) (0)
Faculty Opinions recommendation of Neurochemical abnormalities in premanifest and early spinocerebellar ataxias. (2018) (0)
Faculty Opinions recommendation of Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. (2018) (0)
Is left ventricular longitudinal strain a good prognostic factor in Friedreich ataxia? (2019) (0)
Faculty Opinions recommendation of Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. (2018) (0)
Faculty Opinions recommendation of The cerebellar cognitive affective/Schmahmann syndrome scale. (2018) (0)
Faculty Opinions recommendation of Triple representation of language, working memory, social and emotion processing in the cerebellum: convergent evidence from task and seed-based resting-state fMRI analyses in a single large cohort. (2018) (0)
Faculty Opinions recommendation of Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2. (2018) (0)
Faculty Opinions recommendation of Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset. (2021) (0)
Faculty Opinions recommendation of Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study. (2018) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557. (2006) (0)
Author’s Reply to Peverill: “Predictors of Left Ventricular Dysfunction in Friedreich’s Ataxia in a 16-Year Observational Study” (2020) (0)
Auto-Gait (2022) (0)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
High COMT activity is associated with earlier age at onset in PD (2013) (0)
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (2021) (0)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. (2013) (0)
DIFFUSION TENSOR IMAGING AND NEUROPSYCHIATRIC DISTURBANCE IN HUNTINGTON'S DISEASE (2014) (0)
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). (2012) (0)
E15 Structural Connectivity In Huntington’s Disease (2014) (0)
Faculty Opinions recommendation of Update on the genetics of spastic paraplegias. (2021) (0)
Abnormal Responses to Visual Cortex Activation in Early Stage Huntington Disease Patients Using 31P-NMR Spectroscopy (P06.033) (2012) (0)
D19 Longitudinal changes in functional connectivity of cortico-basal ganglia networks in manifest and premanifest huntington’s disease (2016) (0)
E16 Diffusion Tensor Imaging And Neuropsychiatric Disturbance In Huntington ’s Disease (2014) (0)
Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515. (2006) (0)
2016 in Review and Message from the Editors to our Reviewers (2017) (0)
Composite Cerebellar Functional Severity Score (CCFS) is Specific to Cerebellar Dysfunction in Multiple Sclerosis. (P3.226) (2015) (0)
0210: Long term follow up of cardiomyopathy in Friedreich Ataxia (2015) (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)
Faculty Opinions recommendation of Widening the phenotypic spectrum - Non epileptic presentation of folate transporter deficiency. (2021) (0)
Assessment of Functional Connectome Construction Strategies in Neurodegeneration (2018) (0)
Sample Size Estimation for Future Therapeutic Trials in SCAs (S12.004) (2012) (0)
Track-HD tracking progression in premanifest and early Huntington's disease (2008) (0)
Short-interval observational data to inform clinical trial design in early Huntington ’ s Disease (2015) (0)
Faculty Opinions recommendation of Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study. (2021) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556. (2006) (0)
M2 A randomised, double-blind, placebo-controlled trial evaluating cysteamine in huntington’s disease (2016) (0)
J5 Outcome in 25% at-risk individuals after presymptomatic testing for huntington’s disease (2016) (0)
Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy. (2021) (0)
G13 Abnormal responses to visual cortex activation in early stage Huntington disease patients using 31P-NMR spectroscopy (2012) (0)
Reply: Early-onset phenotype of bi-allelic GRN mutations. (2020) (0)
DNA REPAIR PATHWAYS MODULATE ONSET IN POLYGLUTAMINE DISEASES (2016) (0)
Basal ganglia connectivity inferred from tractography : dealing with direct and indirect connections (2011) (0)
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein (2017) (0)
J11 Contemporary dance improves motor function and body perception in huntington disease (2018) (0)
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552. (2006) (0)
Faculty Opinions recommendation of Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. (2018) (0)
On Chorea – quantitative and objective analysis – cross-sectional results of the TRACK-HD Study (2009) (0)
Postural control in Huntington's disease cross sectional results from the TRACK-HD study (2010) (0)
B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases (2016) (0)
Machine learning spots the time to treat Huntington disease (2021) (0)
D10 Neurofilament light protein in blood predicts regional atrophy in huntington’s disease (2018) (0)
Faculty Opinions recommendation of Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration. (2021) (0)
J03 The potential of a composite cognitive score for tracking progression in Huntington's disease (2012) (0)
Huntington Disease Like Phenotypes Not Linked to CAG Repeat Expansions in the HTT Gene (S32.002) (2012) (0)
Forecasting individual progression trajectories in Huntington disease enables more powered clinical trials (2022) (0)
Eighth Annual Huntington Disease Clinical Research Symposium (2014) (0)
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients (2011) (0)
Faculty Opinions recommendation of Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes. (2021) (0)
FV 21 Heading for imaging read-outs in Huntington’s disease: Sample size calculations for longitudinal automatic MRI volumetry (2019) (0)
Cerebellar Ataxia and Elevated Cerebrospinal Free Sialic Acid (2009) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553. (2006) (0)
Faculty Opinions recommendation of Urinary symptoms, quality of life, and patient satisfaction in genetic and sporadic hereditary spastic paraplegia. (2021) (0)
Finger tapping as an objective motor phenotype marker in pre-manifest and symptomatic Huntington's disease – cross-sectional results from the TRACK-HD Study (2009) (0)
Faculty Opinions recommendation of Autonomy level and quality of everyday experience of people with Hereditary Spastic Paraplegia. (2021) (0)
Probabilistic atlas of the connections between the basal ganglia and the cortex (2010) (0)
Iconography : Hereditary spastic paraplegia: More than an upper motor neuron disease (2017) (0)
A05 Early transcriptional modifications of the developing brain in huntington disease (2022) (0)
Faculty Opinions recommendation of Evaluation of antisense oligonucleotides targeting ATXN3 in SCA3 mouse models. (2018) (0)
C01 Glutamine codon usage and somatic mosaicism of the HTT cag repeat are modifiers of huntington disease severity (2018) (0)
[Anti-sense oligonucleotides RNA therapy in Huntington disease: a great promise and many unknowns]. (2019) (0)
Faculty Opinions recommendation of Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease. (2018) (0)
F29 Pyramidal involvement in Huntington disease (2022) (0)
ENS Communications (2001) (0)
Faculty Opinions recommendation of Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH study. (2018) (0)
Faculty Opinions recommendation of Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. (2021) (0)
DORSAL COLUMN Grey Matter Operationalizing compensation over time in neurodegenerative disease (0)
Faculty Opinions recommendation of Spinal cord damage in spinocerebellar ataxia type 1. (2018) (0)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555. (2006) (0)
Faculty Opinions recommendation of "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. (2021) (0)
Response to Park et al. (2021) (0)
Quantitative motor phenotype assessment in pre-manifest and symptomatic Huntington's disease: tongue force analysis differentiates between disease stages and provides high phenotype correlation. Cross sectional results from the TRACK-HD Study (2009) (0)
Front & Back Matter (2012) (0)
Faculty Opinions recommendation of Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. (2021) (0)
Cecilia BonnetEmmanuelle ApartisMathieu Anheim • Andre P. LegrandJose F. Baizabal-Carvallo • Anne M. BonnetAlexandra DurrMarie Vidailhet (2012) (0)
E05 6-,9- And 15-Month Change in Cortical Thickness and Region-Of-Interest Volume And Diffusion Metrics in Huntington’s Disease: Informing Trial Design (2014) (0)
Poster 8: Reliability of the Problem Behaviours Assessment for HD (short version)–Data From the TRACK-HD Study (2010) (0)
Sensitivity of gait analysis to detect motor phenotype in pre-manifest and manifest Huntington's disease – cross-sectional results from the TRACK-HD Study (2009) (0)
E03 Can The Distribution Of Caudate Atrophy Rates Seen Over Short Time Intervals Be Predicted From Changes Over Longer Intervals? (2014) (0)
Table 2. [Selected SPG11 Benign Variants]. (2013) (0)
Faculty Opinions recommendation of Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study. (2021) (0)
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease (2011) (0)
Spinocerebellar Ataxia 13, 14, and 16 (2003) (0)
D18 Brain network breakdown and pathophysiological correlates in huntington’s disease (2016) (0)
E11 Compensation in huntington’s disease (2018) (0)
SCA5 (Spinocerebellar Ataxia 5) (2016) (0)
Awareness in Huntington’s Disease Manuscript 1 Executive impairment is associated with unawareness of neuropsychiatric symptoms in premanifest and early Huntington’s disease (2018) (0)
Faculty Opinions recommendation of Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease. (2018) (0)
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023) (0)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
Neuropathology of Neurodegenerative Diseases: Neurodegenerative diseases linked to trinucleotide repeats (2000) (0)
Faculty Opinions recommendation of Dominant mutations in GRM1 cause spinocerebellar ataxia type 44. (2018) (0)
Clinical and Genetic Features of PARKIN-Related Parkinson’s Disease (2007) (0)
G03 Corpus callosal atrophy in Huntington's disease (2012) (0)
OCULOMOTOR DEFICITS IN PREMANIFEST AND EARLY HUNTINGTON'S DISEASE AND THEIR STRUCTURAL BRAIN CORRELATES: THE LONGITUDINAL TRACK-HD STUDY (2012) (0)
Reproductive history after predictive testing for Huntington’s disease: a European collaborative study (2002) (0)
H61 Representations about end of life discussions in patients with neurogenetic diseases and their casegivers: diragene study (2022) (0)
de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia (2020) (0)
Faculty Opinions recommendation of Oculomotor deficits in spinocerebellar ataxia type 3: Potential biomarkers of preclinical detection and disease progression. (2018) (0)
SCA3, Machado–Joseph Disease (2010) (0)
Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias (2012) (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)
D08 Neurofilament light protein in blood as a potential biomarker of neurodegeneration in hungtington’s disease: a retrospective cohort analysis (2018) (0)
Faculty Opinions recommendation of Human SPG11 cerebral organoids reveal cortical neurogenesis impairment. (2021) (0)
Faculty Opinions recommendation of Assessing non-Mendelian inheritance in inherited axonopathies. (2021) (0)
Faculty Opinions recommendation of Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. (2018) (0)
Movement disorders: Are umbrella terms for rare genetic diseases still useful? (2016) (0)
Progression Characteristics in Friedreich's Ataxia: A 4-Year Observational Study (2020) (0)
Autosomal dominant spastic paraplegia with sensory deficits and muscle wasting (SPG36) maps to chromosome 12q23–24 (2007) (0)
Clinical features of early and juvenile onset in polyglutamine disorders other than Huntington’s disease: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy (2009) (0)
Faculty Opinions recommendation of Diagnosis and management of progressive ataxia in adults. (2021) (0)
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation” (2010) (0)
M9 Contemporary dance training improves motor and executive function in HD (2016) (0)
Serum NfL in spinocerebellar ataxia type 1 is increased already at the preataxic stage, correlating with proximity to clinical onset (2021) (0)
LRRK2 ASSOCIATED PARKINSON'S DISEASE: CLINICAL FACTORS BASED ON WORLDWIDE EXPERIENCE (2009) (0)
Faculty Opinions recommendation of Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38. (2018) (0)
Evolution of Outcome Measures in Spinocerebellar Ataxias (2018) (0)
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3 (2023) (0)
Table 2. [Selected SPAST Allelic Variants]. (2012) (0)
A ThirdLocusforAutosomal Dominant Cerebellar Ataxia TypeIMapstoChromosome14q24.3-qter: Evidence forthe Existence ofa Fourth Locus (1994) (0)
Diagnostiquer une maladie avant qu'elle ne soit visible (2009) (0)
Spectre phénotypique de l’ataxie cérébelleuse autosomique récessive type 2 (mutations du gène ADCK3 ) (2014) (0)
Impact de la danse contemporaine sur les troubles moteurs et les représentations internes de l’espace dans la maladie de Huntington – Un essai randomisé contrôlé (2018) (0)
Le diagnostic présymptomatique dans les maladies neurodégénératives dominantes autosomiques (2002) (0)
ARCA 3 : une nouvelle cause d’ataxie cérébelleuse récessive (2014) (0)
À la recherche d'un univers de connaissance idéal : étude préliminaire de l'évolution des espaces de travail et des agencements du discours scientifique écrit (2004) (0)
Facteur génétique et variabilité clinique dans la maladie de Huntington (2017) (0)
Intérêt de la stimulation magnétique dans les paraplégies spastiques familiales (PSF) (1997) (0)
P4-2 Tauopathie diffuse sans mutation MAPT chez 4 patients avec ataxie cérébelleuse et démence familiale (2009) (0)
Étude comparative multimodale des ataxies avec apraxie oculomotrice (AT, AOA1 et AOA2) (2017) (0)
Précurseur de la propionyl coenzyme a pour le traitement de la maladie de huntington et d'autres maladies polyglutamines (2007) (0)
Le phénotype atypique des maladies de Friedreich de début tardif et très tardif (2013) (0)
Ataxie avec apraxie oculomotrice de type 1 (AOA1) : étude clinique, paraclinique et corrélation génotype-phénotype chez 80 patients (2017) (0)
Maladie de Huntington (2021) (0)
M - 10 Mutations du gène NIPA1 (SPG6) : une cause rare de paraparésie spastique héréditaire en Europe (2007) (0)
Liminalité après un diagnostic génétique présymptomatique (2018) (0)
SPG11 : caractéristiques cliniques et histoire naturelle (2018) (0)
« Prédiction » dans les maladies génétiques à révélation tardive (2020) (0)
Stimulation bilatérale du pallidum interne dans la maladie de Huntington : à propos de 3 patients (2015) (0)
Myoclonus dystonia : caractérisation clinique et neurophysiologique, nouveaux aspects génétiques (2008) (0)
Prescription des tests génétiques : ce qui a changé (2015) (0)
M - 3 Identification d’une nouvelle forme d’Ataxie Spastique autosomique récessive (2007) (0)
La diplopie non paralytique d’origine cérébelleuse (2017) (0)
Altération du gène de la polymérase gamma de l’ADN mitochondrial (POLG) en pathologie neurologique (2013) (0)
Thérapie anaplérotique de la maladie de huntington et d'autres maladies liées à la polyglutamine (2007) (0)
Ataxie avec apraxie oculomotrice de type 2 (AOA2) : étude clinique, biologique et corrélation génotype/phénotype d’une cohorte de 90 patients (2010) (0)
Utilisation et impact des neuroleptiques dans la maladie de Huntington : étude à partir de la cohorte du réseau Huntington de langue française (2011) (0)
Chapitre 4 – Aspects génétiques1 (2015) (0)
Description et comparaison du phénotype des Friedreich typiques, de début tardif, et de début très tardif (2014) (0)
A la recherche d’un univers de connaissance idéal: étude préliminaire de l’évolution des espaces de travail et des agencements du discours scientifique écrit (2004) (0)
Thérapie anaplerotic de la maladie de Huntington et d'outres maladies à polyglutamine (2006) (0)
Intérêt d’un panel de gènes de paraparésies spastiques héréditaires (2021) (0)
I06 Correlations between structural damage and functional deficits in early Huntington's disease (2010) (0)
D21 Longitudinal compensation in the cognitive network in huntington’s disease (2016) (0)
Genetic Lesions and Their Role in Classification and Progression 19 (1996) (0)
[Presymptomatic diagnosis in genetics: the model of Huntington disease]. (1997) (0)
L03 Use and impact of neuroleptics in Huntington's disease: a prospective cohort study of the Huntington French speaking group (2010) (0)
Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument (2012) (0)
A Diagnostic Flowchart For POLG Related Diseases Based On Signs Sensitivity And Specificity (P3.299) (2014) (0)
Anaplerotic THERAPY OF HUNTINGTON'S DISEASE AND OTHER POLYGLUTAMINSYGDOMME (2007) (0)
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (0)
P14.102 Cerebellar atrophy patterns in paraneoplastic cerebellar degeneraiton and spinocerebellar ataxia 1 (SCA1) (2019) (0)
C06 The β-catenin repressor GSK-3β is a modifier of age at onset in Huntington's disease (2010) (0)
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
Spinocerebellar ataxia type 36 (SCA36): Expanding the Genotype and Phenotype (2013) (0)
I02 Automated longitudinal measures of global and regional brain volume change in premanifest and early Huntington's disease (2010) (0)
Allogeneic hematopoietic stem cell transplantation in patients with beta-thalassemia (2001) (0)
F14 Speeded tapping assesses progression of huntington's disease within one year—results from the track-HD study (2010) (0)
Table 1. [Summary of Molecular Genetic Testing Used in SPG4]. (2012) (0)
J01 Triheptanoin is associated with clinical stability and decreased caudate atrophy in huntington disease (2021) (0)
[Cerebellar ataxia with autosomal dominant transmission]. (1994) (0)
H01 Significant biological and clinical change detected over 1 year in premanifest and early stage Huntington's disease in the TRACK-HD study (2010) (0)
Table 2. [Selected Pathogenic AFG3L2 Allelic Variants]. (2013) (0)
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA IN A CARIBBEAN FAMILY LINKED TO THE SCA 2 LOCUS ON CHROMOSOME 12q: PATHOLOGICAL STUDY OF TWO CASES (1995) (0)
AtaxiawithVitaminE Deficiency: Refinement ofGenetic Localization andAnalysis ofLinkageDisequilibrium byUsingNew Markersin14Families (1995) (0)
D03 Prenatal diagnosis after presymptomatic testing for Huntington's disease: attitudes, decision making and emotional outcome (2010) (0)
D9 An evaluation of methods for the volumetric measurement of grey matter in huntington’s disease (2016) (0)
Familial Herpes Simplex Encephalitis (2002) (0)
Human Neurogenetics: Neurodegenerative Diseases (1999) (0)
Movement disorders: Are umbrella terms for rare genetic diseases still useful? (2016) (0)
Table 1. [Summary of Molecular Genetic Testing Used in SCA 28]. (2013) (0)
G08 A multicentre approach for the detection of patterns of impairment in Huntington's disease by using diffusion tensor imaging (2012) (0)
ORF 72 repeat expansions are a rare genetic cause of parkinsonism Running head : C 9 ORF 72 repeat expansion in parkinsonism (2018) (0)
OTHER NMDs EP.354 An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG11, SPG7 and SPG15 (2021) (0)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
Interaction between Neurons and the Oligodendroglial Lineage in Multiple Sclerosis and Its Preclinical Models (2021) (0)
[Neuromyelitis optica]. (2023) (0)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)

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