Thomas D. Bird

Thomas D. Bird's AcademicInfluence.com Rankings

Thomas D. Bird

Biology

#5651

World Rank

#8180

Historical Rank

Molecular Biology

#520

World Rank

#533

Historical Rank

Genetics

#516

World Rank

#592

Historical Rank

Neuroscience

#648

World Rank

#675

Historical Rank

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Biology

Thomas D. Bird's Degrees

Doctorate Neurology Harvard University

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Thomas D. Bird's Published Works

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

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

Published Works

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis (1993) (6694)
Secreted amyloid β–protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease (1996) (2328)
Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) (1656)
Tau is a candidate gene for chromosome 17 frontotemporal dementia (1998) (1339)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. (1998) (951)
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. (1992) (920)
Carotid Endarterectomy and Prevention of Cerebral Ischemia in Symptomatic Carotid Stenosis (1991) (920)
Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. (1996) (884)
DNA deletion associated with hereditary neuropathy with liability to pressure palsies (1993) (772)
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis (2008) (701)
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. (2002) (615)
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) (1999) (602)
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance (2010) (515)
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. (1999) (511)
Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. (1998) (497)
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease (2012) (495)
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A New Group of Tauopathies (1998) (481)
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. (1998) (478)
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions (2010) (475)
Review Article: Genetics of Alzheimer Disease (2010) (403)
Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene (1993) (342)
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 (2006) (339)
Symptom onset in autosomal dominant Alzheimer disease (2014) (338)
Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria. (2009) (331)
The number of trait loci in late-onset Alzheimer disease. (2000) (313)
TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy (2016) (313)
Actionable exomic incidental findings in 6503 participants: challenges of variant classification (2015) (308)
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis (2012) (308)
Apolipoprotein E genotype and Alzheimer's disease (1993) (307)
TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy (2016) (305)
Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors (2011) (302)
Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A (1992) (297)
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. (2002) (281)
Common variants at MS 4 A 4 / MS 4 A 6 E , CD 2 AP , CD 33 and EPHA 1 are associated with late-onset Alzheimer ’ s disease (2011) (274)
Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families (2012) (270)
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP (1997) (267)
Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease: a possible clue to the higher incidence of Alzheimer disease in women. (1996) (249)
Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease. (1988) (247)
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. (2003) (240)
Alzheimer's disease: Choline acetyltransferase activity in brain tissue from clinical and pathological subgroups (1983) (234)
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. (1982) (232)
Genome-Wide Association of Familial Late-Onset Alzheimer's Disease Replicates BIN1 and CLU and Nominates CUGBP2 in Interaction with APOE (2011) (226)
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) (1999) (222)
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families (1998) (222)
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative (2007) (218)
Mutations in SEPT9 cause hereditary neuralgic amyotrophy (2005) (217)
Phenotypic Variability of Gerstmann-Straussler-Scheinker Disease is Associated with Prion Protein Heterogeneity (1998) (209)
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. (2012) (208)
The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. (1997) (203)
An R5L τ mutation in a subject with a progressive supranuclear palsy phenotype (2002) (202)
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. (2010) (202)
Hereditary ataxias: overview (2013) (201)
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. (2008) (196)
Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities. (2004) (195)
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2019) (194)
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C (2003) (190)
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. (2010) (173)
Gene expression in Huntington's disease skeletal muscle: a potential biomarker. (2005) (173)
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. (2010) (171)
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. (2001) (169)
Dandy‐Walker malformation: etiologic heterogeneity and empiric recurrence risks (1985) (169)
Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. (1991) (160)
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. (2002) (159)
A prion protein variant in a family with the telencephalic form of Gerstmann‐Sträussler‐Scheinker syndrome (1991) (159)
Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin (1997) (147)
β-Synuclein gene alterations in dementia with Lewy bodies (2004) (145)
Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. (1995) (144)
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis (1994) (143)
Mutations in prickle orthologs cause seizures in flies, mice, and humans. (2011) (143)
Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
Familial alzheimer's disease in american descendants of the volga germans: Probable genetic founder effect (1988) (140)
Hereditary Ataxia Overview (2016) (139)
Alzheimer's disease, apolipoprotein E4, and gender. (1994) (139)
A familial neuronal disease presenting as intestinal pseudoobstruction (1978) (134)
Genetic aspects of Alzheimer disease (2008) (127)
Epidemiology and genetics of frontotemporal dementia/Pick's disease (2003) (125)
Neuropathic pain in Charcot-Marie-Tooth disease. (1998) (123)
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. (2016) (122)
LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago. (2006) (121)
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. (1999) (120)
Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala (1992) (118)
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study. (2015) (117)
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (2013) (117)
Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2) (2004) (116)
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia (1998) (116)
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. (2007) (115)
Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy (2012) (114)
Spinocerebellar Ataxia Type 14 Caused by a Mutation in Protein Kinase C γ (2003) (111)
Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay (2014) (111)
Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia (2014) (110)
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA (1998) (109)
Myoclonus, Seizures, and Paratonia in Alzheimer Disease (1990) (109)
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. (2001) (108)
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. (2000) (108)
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. (2012) (107)
Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. (2004) (105)
Phenotype of chromosome 14–linked familial Alzheimer's disease in a large kindred (1994) (105)
C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. (2013) (105)
Alzheimer Disease Overview (2015) (105)
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. (2006) (105)
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. (1998) (102)
Neuropathological findings in patients with clinical diagnoses of probable Alzheimer's disease. (1990) (101)
Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory (2012) (101)
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). (1990) (101)
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview (2016) (101)
Wide range in age of onset for chromosome 1‐related familial Alzheimer's disease (1996) (101)
Transmission and age‐at‐onset patterns in familial Alzheimer's disease (1990) (100)
Familial dementia with PrP‐positive amyloid plaques (1989) (100)
Huntington's disease–like 2 (HDL2) in North America and Japan (2004) (97)
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. (2011) (97)
Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. (2008) (96)
Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations. (2001) (96)
Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type. (1987) (96)
Neural transplantation in Huntington disease: Long-term grafts in two patients (2007) (94)
Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics (2006) (93)
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred (2006) (93)
Severe vincristine neuropathy in charcot‐marie‐tooth disease type 1A (1996) (92)
Genetic factors in Alzheimer's disease: A review of recent advances (1996) (92)
Structural heterogeneity and intersubject variability of Aβ in familial and sporadic Alzheimer’s disease (2018) (92)
Evidence for association of HLA-A2 allele with onset age of Alzheimer's disease (1997) (92)
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells. (2013) (91)
CDC7 inhibition blocks pathological TDP‐43 phosphorylation and neurodegeneration (2013) (90)
A patient with Huntington’s disease and long-surviving fetal neural transplants that developed mass lesions (2009) (90)
Beta-synuclein gene alterations in dementia with Lewy bodies. (2004) (88)
Familial degeneration of the basal ganglia with acanthocytosis: A clinical, neuropathological, and neurochemical study (1978) (88)
Endocytic disturbances distinguish among subtypes of alzheimer's disease and related disorders (2001) (88)
Cognitive and personality function in myotonic muscular dystrophy. (1983) (86)
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations (2013) (85)
The Tau Tubulin Kinases TTBK1/2 Promote Accumulation of Pathological TDP-43 (2014) (84)
Chromosome 17 and hereditary dementia (1997) (84)
Trisomy 17p associated with Charcot‐Marie‐Tooth neuropathy type 1A phenotype (1992) (83)
A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2 (2010) (82)
GeneTests‐GeneClinics: Genetic testing information for a growing audience (2002) (82)
A familial neuronal disease presenting as intestinal pseudoobstruction. (1978) (81)
Apolipoprotein E genotyping in the diagnosis of alzheimer's disease: A cautionary view (1995) (81)
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. (2003) (81)
Functional implications of a novel EA2 mutation in the P/Q‐type calcium channel (2004) (80)
Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease (1992) (79)
Heritability of different forms of memory in the Late Onset Alzheimer's Disease Family Study. (2011) (79)
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. (2004) (77)
Aβ and tau prion-like activities decline with longevity in the Alzheimer’s disease human brain (2019) (77)
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. (1996) (77)
Apolipoprotein E genotypes and age of onset in early‐onset familial Alzheimer's disease (1995) (77)
Late onset Huntington Disease: Clinical and genetic characteristics of 34 cases (2009) (76)
TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam. (2001) (75)
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. (2002) (75)
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. (2005) (75)
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q (1996) (74)
Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease. (2006) (73)
The clinical and genetic spectrum of spinocerebellar ataxia 14 (2005) (72)
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. (2002) (72)
APOE and other loci affect age‐at‐onset in Alzheimer's disease families with PS2 mutation (2005) (72)
Neurological manifestations of fabry disease in female carriers (1978) (71)
ADCY5-related dyskinesia (2015) (71)
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene (2010) (70)
Ventilatory support in facioscapulohumeral muscular dystrophy (2005) (70)
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. (1985) (70)
Recovery from barbiturate overdose coma with a prolonged isoelectric electroencephalogram (1968) (70)
Early-Onset Familial Alzheimer Disease (2012) (68)
Familial aggregation of psychotic symptoms in Huntington's disease. (2000) (67)
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease (2000) (66)
Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia (2005) (66)
Comparison of the severity of neuropathologic changes in familial and sporadic Alzheimer's disease. (1993) (66)
Familial prion disease with alzheimer disease‐like tau pathology and clinical phenotype (2011) (66)
Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families. (2002) (65)
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. (1996) (64)
Amyloid angiopathy in a volga german family with Alzheimer's disease and a presenilin‐2 mutation (N141I) (1998) (64)
Seizures in juvenile Huntington's disease: Frequency and characterization in a multicenter cohort (2012) (64)
Genetic factors in Alzheimer's disease. (2005) (63)
Risk factors for suicide in Huntingtons disease: a retrospective case controlled study. (1993) (63)
Analysis of the DNA duplication 17p11.2 in Charcot‐Marie‐Tooth neuropathy type 1 pedigrees (1992) (63)
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve (2004) (63)
Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease) (1983) (62)
The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy (2012) (62)
Niemann-Pick Disease Type C Yields Possible Clue for Why Cerebellar Neurons Do Not Form Neurofibrillary Tangles (2002) (62)
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. (2007) (62)
Clinical and pathological phenotype of the original family with Charcot‐Marie‐Tooth type 1B: A 20‐year study (1997) (62)
Sexual function in married men with Parkinson's disease compared to married men with arthritis (1990) (61)
The Clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients (1996) (61)
Parkinsonism syndrome in heterozygotes for Niemann–Pick C1 (2013) (61)
Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation (2003) (60)
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25 (1997) (59)
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. (2006) (59)
Neuropathological heterogeneity in Alzheimer’s disease: A study of 80 cases using principal components analysis (2000) (59)
Correction: A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) (Brain (1999) 122, 4 (741-756)) (1999) (59)
Outrageous fortune: the risk of suicide in genetic testing for Huntington disease. (1999) (57)
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. (2012) (57)
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene (1998) (57)
Genetic association studies (2001) (57)
Age at onset of Parkinson disease and apolipoprotein E genotypes. (2002) (56)
Transmission and age-at-onset patterns in familial Alzheimer??s disease: evidence for heterogeneity (1991) (56)
Aberrant Detergent-Insoluble Excitatory Amino Acid Transporter 2 Accumulates in Alzheimer Disease (2010) (56)
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects (2017) (56)
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials. (2016) (54)
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss (2013) (54)
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. (2009) (53)
Defining SOD1 ALS natural history to guide therapeutic clinical trial design (2016) (53)
Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity (2002) (52)
Genetic data and cognitively defined late-onset Alzheimer’s disease subgroups (2018) (52)
Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration (2018) (52)
Resistance and resilience to Alzheimer’s disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort (2019) (52)
Theophylline‐associated seizures with “therapeutic” or low toxic serum concentrations (1987) (52)
Polygenic risk scores in familial Alzheimer disease (2017) (52)
Charcot‐Marie‐Tooth disease: Data for genetic counseling relating age to risk (1978) (51)
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. (2005) (51)
Inherited deficiency of delta-aminolevulinic acid dehydratase. (1979) (51)
Longitudinal features of stir bright signal in FSHD1 (2014) (51)
Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. (1992) (50)
Proteomic determination of widespread detergent insolubility, including Aβ but not tau, early in the pathogenesis of Alzheimer's disease (2005) (49)
The Apolipoprotein E E4 Allele and Sex-Specific Risk of Alzheimer's Disease (1995) (49)
Sertraline, Paroxetine, and Chlorpromazine Are Rapidly Acting Anthelmintic Drugs Capable of Clinical Repurposing (2018) (49)
Age-specific incidence rates for dementia and Alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzhei (2014) (48)
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13) (2011) (48)
Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes (2002) (47)
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy (2009) (46)
The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease. (2016) (46)
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. (1991) (45)
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. (1998) (45)
Detergent‐Insoluble EAAC1/EAAT3 Aberrantly Accumulates in Hippocampal Neurons of Alzheimer's Disease Patients (2009) (45)
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1 (2020) (45)
Age-at-Onset in Late Onset Alzheimer Disease is Modified by Multiple Genetic Loci (2014) (44)
X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations (2000) (44)
Presenilin‐1 protein expression in familial and sporadic Alzheimer's disease (1997) (44)
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutations (2010) (43)
The co-occurrence of Alzheimer's disease and Huntington's disease: a neuropathological study of 15 elderly Huntington's disease subjects. (2014) (43)
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies (1994) (43)
Analysis of the α-synuclein G209A mutation in familial Parkinson's disease (1998) (42)
Late-onset SCA2 (2000) (42)
Apolipoprotein E genotype and Alzheimer's disease. (1993) (41)
Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations (1999) (41)
An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits (2003) (41)
Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease. (2008) (41)
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. (2002) (41)
Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1 (2009) (41)
Pattern‐reversal visual evoked potentials in the hereditary ataxias and spinal degenerations (1981) (41)
Antibodies to presenilin proteins detect neurofibrillary tangles in Alzheimer's disease. (1996) (41)
Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease (2008) (40)
Intracellular calcium response is reduced in CD4+ lymphocytes in Alzheimer's disease and in older persons with down's syndrome (1993) (40)
Brain Expression of Presenilins in Sporadic and Early-onset, Familial Alzheimer’s Disease (2000) (40)
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry (2013) (40)
Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy. (1981) (40)
Rarity of the Alzheimer disease-protective APP A673T variant in the United States. (2015) (39)
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34 (1998) (39)
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy (2001) (37)
Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects (2013) (36)
Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. (2009) (36)
Recent Advances in the Genetics of Alzheimer's Disease (1998) (36)
Familial essential ("benign") chorea. (1976) (36)
The phosphatase calcineurin regulates pathological TDP-43 phosphorylation (2016) (36)
Why do DNA testing? Practical and ethical implications of new neurogenetic tests (1995) (35)
Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. (2005) (35)
Lack of evidence for an association between UCHL1 S18Y and Parkinson’s disease (2007) (35)
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation (2011) (35)
Familial occurrence of dementia with Lewy bodies. (2004) (34)
Familial aggregation of schizophrenia-like symptoms in Huntington's disease. (1998) (34)
Autonomic nervous system function in genetic neuromuscular disorders. Hereditary motor-sensory neuropathy and myotonic dystrophy. (1984) (34)
The Arctic AβPP mutation leads to Alzheimer’s disease pathology with highly variable topographic deposition of differentially truncated Aβ (2013) (34)
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. (2004) (33)
Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43). (1996) (33)
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. (1978) (33)
α-Synuclein in motor neuron disease: an immunohistologic study (2004) (31)
Evidence for three loci modifying age‐at‐onset of Alzheimer's disease in early‐onset PSEN2 families (2010) (30)
Myotonic Dystrophy Type 1 (2015) (30)
Charcot-Marie-Tooth Neuropathy Type 1 (2015) (30)
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (1999) (30)
TREM2 and neurodegenerative disease. (2013) (30)
Mutism in an Adult Following Hypertensive Cerebellar Hemorrhage: Nosological Discussion and Illustrative Case (1997) (29)
Familial Dementia with Lewy Bodies with an Atypical Clinical Presentation (2003) (29)
TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ɛ3/ɛ3 (2013) (29)
HLA-A2 homozygosity but not heterozygosity is associated with Alzheimer disease (2002) (28)
Clinical neurogenetics (1977) (28)
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. (2009) (28)
A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2. (1999) (27)
Risks and benefits of DNA testing for neurogenetic disorders. (1999) (27)
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia (2005) (26)
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation (2004) (26)
Huntington's Disease, Huntington's Disease Look‐Alikes‎, and Benign Hereditary Chorea: What's New? (2016) (26)
MYOTONIC DYSTROPHY, MITRAL-VALVE PROLAPSE, AND STROKE (1978) (25)
Spinocerebellar ataxia type 14. (2013) (25)
Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. (1997) (25)
CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. (1998) (25)
Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers. (1992) (25)
Pro‐apoptotic effects of tau mutations in chromosome 17 frontotemporal dementia and parkinsonism (2000) (25)
Erythrocyte uroporphyrinogen I synthase activity in diagnosis of acute intermittent porphyria. (1976) (25)
Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series. (2006) (25)
Hereditary motor and sensory neuropathy. (1981) (24)
Adult dystonic lipidosis (1982) (24)
Novel Antibody Capture Assay for Paraffin‐Embedded Tissue Detects Wide‐Ranging Amyloid Beta and Paired Helical Filament–Tau Accumulation in Cognitively Normal Older Adults (2012) (23)
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease (2019) (23)
Hereditary benign chorea (2001) (23)
Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease (2016) (23)
A novel X‐linked four‐repeat tauopathy with Parkinsonism and spasticity (2010) (23)
Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations (1999) (23)
Late-onset hereditary axonal neuropathies (2008) (22)
Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain (2019) (22)
Appparent familial multiple sclerosis in three generations. Report of a family with histocompatibility antigen typing. (1975) (22)
“Pure” hereditary spastic paraplegias (1999) (22)
Genetic Considerations in Childhood Epilepsy (1987) (22)
Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son. (2017) (21)
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders (2004) (20)
Evidence for etiologic heterogeneity in Alzheimer's disease (1989) (20)
Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson's disease. (2006) (20)
Charcot-Marie-Tooth Neuropathy Type 2 (2016) (20)
Impotence associated with the Charcot-Marie-Tooth syndrome. (1994) (19)
Nicolaus A. Friedreich's description of peripheral facial nerve paralysis in 1798. (1979) (19)
Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. (1989) (18)
Neurofibromatosis 1 -- GeneReviews(®) (2016) (18)
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. (2010) (18)
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot (2016) (18)
Pseudotumour cerebri and the Turner syndrome. (1985) (17)
LATE-ONSET ALZHEIMER DISEASE (17)
Major Patterns of Human Inheritance: Relevance to the Epilepsies (1994) (17)
Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization (2020) (17)
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy (2015) (17)
Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family? (1990) (16)
parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease. (2004) (16)
Marfan Syndrome -- GeneReviews(®) (2016) (16)
Cone dysfunction in a subgroup of patients with autosomal dominant cerebellar ataxia. (1990) (15)
Correction: Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families (2012) (15)
Genotypes, phenotypes, and frontotemporal dementia Take your pick (1998) (15)
Genetic linkage relationships of Charcot‐Marie‐Tooth disease (HMSN‐Ib) to chromosome 1 markers (1987) (15)
Deafness and Hereditary Hearing Loss Overview -- GeneReviews(®) (2016) (15)
Monozygotic twins with Huntington's disease in a family expressing the rigid variant (1975) (15)
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease (1999) (14)
Abnormal function of endocrine pancreas and anterior pituitary in Friedreich's ataxia. Studies in a family. (1978) (14)
The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease (2013) (14)
Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance (2014) (14)
Myotonic Dystrophy Type 1 -- GeneReviews® (2016) (14)
The c-fos gene and early-onset familial Alzheimer's disease (1993) (14)
Hereditary benign chorea: Clinical and genetic features of a distinct disease (2001) (14)
The porphyria, plumbism, pottery puzzle. (1982) (13)
Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer’s Disease Brain (2020) (13)
Geriatric neurogenetics: oxymoron or reality? (2008) (13)
Classic Galactosemia and Clinical Variant Galactosemia -- GeneReviews(®) (2016) (13)
Novel pregnancy‐triggered episodes of CAPOS syndrome (2018) (13)
CHARACTERISTICS OF FAMILIAL ALZHEIMER'S DISEASE IN NINE KINDREDS OF VOLGA GERMAN ANCESTRY (1989) (13)
Molecular genetic testing for hereditary ataxia: What every neurologist should know. (2018) (13)
Genetic influences in the epilepsies. Review of the literature with practical implications. (1981) (12)
Enhanced retinal responses in Huntington's disease patients. (2017) (12)
ONLY MUTANT PRP PARTICIPATES IN AMYLOID FORMATION IN GERSTMANN-STRÄUSSLER-SCHEINKER DISEASE WITH ALA>VAL SUBSTITUTION AT CODON 117: 21 (1995) (12)
Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy (2019) (11)
Genome sequencing in a case of Niemann–Pick type C (2016) (11)
Genetic variants associated with susceptibility to psychosis in late-onset Alzheimer’s disease families (2015) (11)
Mitochondrial DNA-Associated Leigh Syndrome and NARP -- GeneReviews® (2016) (11)
Familial dyskinesia and facial myokymia (FDFM): Follow‐up of a large family and linkage to chromosome 3p21‐3q21 (2009) (11)
Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M) (2017) (11)
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival (2012) (11)
Familial Hypercholesterolemia -- GeneReviews® (2016) (10)
Myotonic dystrophy associated with Down syndrome (trisomy 21) (1981) (10)
Familial Alzheimer's disease (1994) (10)
A Genetic Study of Psychosis in Huntington's Disease: Evidence for the Involvement of Glutamate Signaling Pathways. (2018) (10)
Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra (2018) (10)
Tuberous Sclerosis Complex -- GeneReviews(®) (2016) (10)
Charcot-Marie-Tooth Neuropathy Type 4 (2016) (10)
Hereditary Ataxia Overview -- GeneReviews® (2016) (10)
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region (1991) (10)
Multiple Endocrine Neoplasia Type 2 -- GeneReviews(®) (2016) (10)
Dominant susceptibility genes (1990) (10)
Prader-Willi Syndrome -- GeneReviews® (2016) (9)
Hereditary Hemorrhagic Telangiectasia -- GeneReviews(®) (2016) (9)
Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive impairment. (2005) (9)
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region (2004) (9)
Cambodian founder effect for spinocerebellar ataxia type 3 (Machado–Joseph disease) (2006) (9)
Ten Year Follow‐up of Paroxysmal Choreoathetosis: A Sporadic Case Becomes Familial (1978) (9)
Neurodegeneration with Brain Iron Accumulation Disorders Overview -- GeneReviews(®) (2016) (9)
AMY plaques in familial AD (2000) (9)
Gaucher Disease -- GeneReviews(®) (2016) (9)
Mucopolysaccharidosis Type I -- GeneReviews(®) (2016) (9)
Disorders of Intracellular Cobalamin Metabolism -- GeneReviews® (2016) (9)
Alzheimer Disease Overview -- GeneReviews® (2016) (9)
Mitochondrial Disorders Overview -- GeneReviews(®) (2016) (8)
Genetics of Dementia (1998) (8)
PTEN Hamartoma Tumor Syndrome -- GeneReviews® (2016) (8)
Genome scan of age‐at‐onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity (2011) (8)
Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease (2014) (8)
Xeroderma Pigmentosum -- GeneReviews(®) (2016) (8)
The use of apolipoprotein CII as a genetic marker for myotonic dystrophy. (1987) (8)
Progranulin plasma levels in the diagnosis of frontotemporal dementia. (2009) (8)
Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications (1993) (8)
Fibrous Dysplasia/McCune-Albright Syndrome -- GeneReviews(®) (2016) (8)
Charcot-Marie-Tooth Neuropathy X Type 1 (2016) (7)
IMMUNOLOCALIZATION OF HEPARAN SULFATE PROTEOSLYCANS TO “PRIMITIVE PLAQUES” AND MULTI‐CORE PRION POSITIVE PLAQUES IN FAMILIAL DEMENTIA (1988) (7)
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans (2022) (7)
The Genetics of Alzheimer’s Disease and Parkinson’s Disease (2011) (7)
Adult dystonic lipidosis (1984) (7)
Familial Lipoprotein Lipase Deficiency -- GeneReviews® (2016) (7)
Mitochondrial DNA Deletion Syndromes -- GeneReviews® (2016) (7)
Genetic heterogeneity, Down syndrome, and Alzheimer disease. (1992) (7)
Leber Hereditary Optic Neuropathy -- GeneReviews® (2016) (7)
Urea Cycle Disorders Overview -- GeneReviews(®) (2016) (7)
Niemann-Pick Disease Type C -- GeneReviews® (2016) (7)
The consequences of testing for Huntington's disease. (1993) (7)
Mitochondrial Neurogastrointestinal Encephalopathy Disease -- GeneReviews® (2016) (7)
ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors (2019) (7)
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria -- GeneReviews® (2016) (7)
Analysis of the alpha-synuclein G209A mutation in familial Parkinson's disease. (1998) (7)
Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms (2017) (7)
Hereditary Paraganglioma-Pheochromocytoma Syndromes -- GeneReviews® (2016) (7)
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview -- GeneReviews® (2016) (7)
APC-Associated Polyposis Conditions -- GeneReviews® (2016) (7)
Ventilatory support in facioscapulohumeral muscular dystrophy. Authors' reply (2005) (7)
Genome scan in familial late‐onset Alzheimer's disease: A locus on chromosome 6 contributes to age‐at‐onset (2013) (6)
Cantú Syndrome and Related Disorders -- GeneReviews® (2016) (6)
Accounting for Linkage Disequilibrium among Markers in Linkage Analysis: Impact of Haplotype Frequency Estimation and Molecular Haplotypes for a Gene in a Candidate Region for Alzheimer’s Disease (2007) (6)
Hereditary Neuropathy with Liability to Pressure Palsies (2014) (6)
DICER1-Related Disorders -- GeneReviews(®) (2016) (6)
Additional information on familial essential (benign) chorea (1978) (6)
Sporadic cases of possible genetic diseases: to test or not to test? (2000) (6)
Angelman Syndrome -- GeneReviews(®) (2016) (6)
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region. (1991) (6)
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington (2018) (6)
Approaches to the patient with neurogenetic disease. (2010) (6)
Historical Perspective of Defining Charcot‐Marie‐Tooth Type 1B (1999) (6)
TREM2 R47H exacerbates immune response in Alzheimer’s disease brain (2018) (5)
Genetic heterogeneity and Alzheimer`s disease (1994) (5)
Myotonic Dystrophy Type 2 -- GeneReviews(®) (2016) (5)
Coexistence of tuberous sclerosis and Friedreich ataxia (2004) (5)
Friedreich Ataxia -- GeneReviews(®) (2016) (5)
A proposed classification of familial Alzheimer’s disease based on analysis of 32 multigeneration pedigrees (1990) (5)
Beckwith-Wiedemann Syndrome -- GeneReviews® (2016) (5)
Andersen-Tawil Syndrome -- GeneReviews® (2016) (5)
Maple Syrup Urine Disease -- GeneReviews® (2016) (5)
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice (2020) (5)
THE FREQUENCY OF C4B VARIANTS OF COMPLEMENT IN FAMILIAL AND SPORADIC ALZHEIMER DISEASE (1987) (5)
Loeys-Dietz Syndrome -- GeneReviews(®) (2016) (5)
15q Duplication Syndrome and Related Disorders -- GeneReviews(®) (2016) (5)
Ornithine Transcarbamylase Deficiency -- GeneReviews® (2016) (5)
Spinal Muscular Atrophy -- GeneReviews(®) (2016) (5)
22q11.2 Deletion Syndrome -- GeneReviews(®) (2016) (5)
Progress in Amyotrophic Lateral Sclerosis Gene Discovery (2022) (5)
FOXP2-Related Speech and Language Disorders -- GeneReviews(®) (2016) (5)
Linkage analysis of familial Alzheimer's disease (1990) (5)
Multiple Endocrine Neoplasia Type 1 -- GeneReviews(®) (2016) (5)
The effect of apolipoprotein E genotype on expression of an autosomal dominant schizophreniform disorder with progressive dementia and neurofibrillary tangles (1997) (5)
Campomelic Dysplasia -- GeneReviews(®) (2016) (5)
CDC73-Related Disorders -- GeneReviews(®) (2016) (5)
FMR1-Related Disorders -- GeneReviews(®) (2016) (5)
Usher Syndrome Type II -- GeneReviews(®) (2016) (5)
Propionic Acidemia -- GeneReviews(®) (2016) (5)
Neurofibromatosis 2 -- GeneReviews® (2016) (5)
Trypsin inhibitor activities of fibroblasts increase with age of donor and are unaltered in familial Alzheimer's disease (1994) (5)
Penetrating observations of dystonia (1998) (4)
Wolf-Hirschhorn Syndrome -- GeneReviews(®) (2016) (4)
Alström Syndrome -- GeneReviews® (2016) (4)
Sickle Cell Disease -- GeneReviews(®) (2016) (4)
Mitral valve prolapse and cerebral ischemic events. (1980) (4)
Peripheral Neuropathy Association (1993) (4)
Megalencephalic Leukoencephalopathy with Subcortical Cysts -- GeneReviews® (2016) (4)
KCNQ2-Related Disorders -- GeneReviews® (2016) (4)
Short-Chain Acyl-CoA Dehydrogenase Deficiency -- GeneReviews(®) (2016) (4)
Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY (2015) (4)
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer -- GeneReviews(®) (2016) (4)
Are linkage studies boring? (1993) (4)
CCG•CGG interruptions in high penetrance SCA8 families increase RAN translation and protein toxicity (2021) (4)
Diamond-Blackfan Anemia -- GeneReviews® (2016) (4)
Microphthalmia/Anophthalmia/Coloboma Spectrum -- GeneReviews(®) (2016) (4)
X-Linked Hypophosphatemia -- GeneReviews(®) (2016) (4)
Spinocerebellar Ataxia Type 8 -- GeneReviews(®) (2016) (4)
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants (2020) (4)
Dyskeratosis Congenita -- GeneReviews® (2016) (4)
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum -- GeneReviews(®) (2016) (4)
Charcot-Marie-Tooth Neuropathy Type 1 -- GeneReviews(®) (2016) (4)
Nevoid Basal Cell Carcinoma Syndrome -- GeneReviews(®) (2016) (4)
Approaches to the patient with neurogenetic disease. (2002) (4)
Barth Syndrome -- GeneReviews® (2016) (4)
Polycystic Kidney Disease, Autosomal Dominant -- GeneReviews(®) (2016) (4)
Huntington Disease -- GeneReviews® (2016) (4)
Generalized Arterial Calcification of Infancy -- GeneReviews(®) (2016) (4)
Holoprosencephaly Overview -- GeneReviews® (2016) (4)
Essential myoclonus in a kindred with familial malignant melanoma. (1984) (4)
Familial Alzheimer’s Disease in Germans from Russia: A Model of Genetic Heterogeneity in Alzheimer’s Disease (1992) (4)
Linkage and haplotype analysis of familial early-onset Alzheimer disease in Japanese population (1995) (4)
DISTINCTIVE PrP ISOFOMS IN GERSTMANN-STRÄUSSLER-SCHEINKER DISEASE WITH TANGLES (1998) (4)
NKX2-1-Related Disorders -- GeneReviews(®) (2016) (4)
Neuronal Ceroid-Lipofuscinoses -- GeneReviews(®) (2016) (4)
Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90 (2022) (4)
Amyotrophic Lateral Sclerosis Overview -- GeneReviews(®) (2016) (4)
Genetic data and cognitively-defined late-onset Alzheimer’s disease subgroups (2018) (4)
Effects of l-glutamate on viabilities of cultured diploid skin fibroblasts and lymphocytes Increased toxicity not observed in Huntington's disease (1984) (4)
X-Linked Centronuclear Myopathy -- GeneReviews(®) (2016) (3)
Familial Hemiplegic Migraine -- GeneReviews(®) (2016) (3)
Beta-Thalassemia -- GeneReviews(®) (2016) (3)
Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer’s disease (2007) (3)
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia -- GeneReviews(®) (2016) (3)
Clinical approach to the patient with neurogenetic disease. (2018) (3)
SAMD9L-Related Ataxia-Pancytopenia Syndrome (2017) (3)
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia (2020) (3)
Long QT Syndrome -- GeneReviews(®) (2016) (3)
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. (2016) (3)
New gene for CMT (2003) (3)
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia -- GeneReviews(®) (2016) (3)
Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia (2020) (3)
X-Linked Agammaglobulinemia -- GeneReviews® (2016) (3)
Glycogen Storage Disease Type II (Pompe Disease) -- GeneReviews(®) (2016) (3)
ADCY5-related movement disorder: broader spectrum and genotype/phenotype correlations including new cases (P2.140) (2015) (3)
Erratum to: The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot (American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, (2016), 171, 7, (925-930), 10.1002/ajmg.b.32452) (2017) (3)
Mucolipidosis II -- GeneReviews(®) (2016) (3)
ADCY5-Related Dyskinesia -- GeneReviews(®) (2016) (3)
Chediak-Higashi Syndrome -- GeneReviews® (2016) (3)
The case of the missing Tau, or, why didn't the mRNA bark? (2001) (3)
Optic Atrophy Type 1 -- GeneReviews(®) (2016) (3)
Congenital Diaphragmatic Hernia Overview -- GeneReviews(®) (2016) (3)
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- GeneReviews(®) (2016) (3)
Nonsyndromic Disorders of Testicular Development -- GeneReviews(®) (2016) (3)
Primary Ciliary Dyskinesia -- GeneReviews(®) (2016) (3)
Stickler Syndrome -- GeneReviews(®) (2016) (3)
PMM2-CDG (CDG-Ia) -- GeneReviews(®) (2016) (3)
Glycogen Storage Disease Type III -- GeneReviews® (2016) (3)
Chorea-Acanthocytosis -- GeneReviews(®) (2016) (3)
Why should primary care physicians know about the genetics of dementia? (2001) (2)
Leukodystrophy Overview -- GeneReviews(®) (2016) (2)
X-Linked Adrenoleukodystrophy -- GeneReviews® (2016) (2)
OTOF-Related Deafness -- GeneReviews® (2016) (2)
Urofacial Syndrome -- GeneReviews(®) (2016) (2)
An 8‐generation family with X‐linked Charcot–Marie–Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in GJB1 and its clinical features (2018) (2)
Frontotemporal dementia: genotypes, phenotypes and more problems to be solved (2001) (2)
15q24 Microdeletion Syndrome -- GeneReviews(®) (2016) (2)
Congenital Hepatic Fibrosis Overview -- GeneReviews® (2016) (2)
FGFR-Related Craniosynostosis Syndromes -- GeneReviews® (2016) (2)
Details of neuropathology in Arctic Alzheimer's disease (2010) (2)
Lenz Microphthalmia Syndrome -- GeneReviews® (2016) (2)
Smith-Magenis Syndrome -- GeneReviews(®) (2016) (2)
C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis (2020) (2)
Linkage of the G8 marker on chromosome 4 to Huntington's disease in a large American black family. (1986) (2)
Genetic factors in neurodegenerative diseases (2017) (2)
Silver syndrome (2008) (2)
Treacher Collins Syndrome -- GeneReviews® (2016) (2)
Age-Specific Incidence Rate For Dementia And Alzheimer’s Disease In NIA-LOAD/NCRAD and EFIGA Families (P2.148) (2014) (2)
Spondylothoracic Dysostosis -- GeneReviews(®) (2014) (2)
Hyperkalemic Periodic Paralysis -- GeneReviews(®) (2016) (2)
Congenital Central Hypoventilation Syndrome -- GeneReviews(®) (2016) (2)
Arylsulfatase A Deficiency -- GeneReviews® (2016) (2)
Emery-Dreifuss Muscular Dystrophy -- GeneReviews(®) (2016) (2)
Familial Hyperinsulinism -- GeneReviews® (2016) (2)
Aβ and tau prions feature in the neuropathogenesis of Down syndrome (2022) (2)
DYT1 Early-Onset Primary Dystonia -- GeneReviews(®) (2016) (2)
Aicardi Syndrome -- GeneReviews® (2016) (2)
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia -- GeneReviews(®) (2016) (2)
Neuronal intranuclear inclusion disease in two adult siblings (1985) (2)
Developmental dissociation of myelin synthesis and “myelin-associated” enzyme activities in the shiverer mouse (1980) (2)
Inaugural Huntington Disease Clinical Research Symposium Organized by the Huntington Study Group (2011) (2)
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome -- GeneReviews(®) (2017) (2)
Bloom’s Syndrome -- GeneReviews(®) (2016) (2)
Riboflavin Transporter Deficiency Neuronopathy -- GeneReviews® (2016) (2)
Legius Syndrome -- GeneReviews(®) (2016) (2)
Wilson Disease -- GeneReviews(®) (2016) (2)
SYNE1-Related Autosomal Recessive Cerebellar Ataxia -- GeneReviews(®) (2016) (2)
Creatine Deficiency Syndromes -- GeneReviews(®) (2016) (2)
Androgen Insensitivity Syndrome -- GeneReviews® (2016) (2)
Leber Congenital Amaurosis -- GeneReviews(®) (2016) (2)
ADCY5‐related dyskinesia: Comments on characteristic manifestations and variant‐associated severity (2017) (2)
Cornelia de Lange Syndrome -- GeneReviews® (2016) (2)
Hereditary Folate Malabsorption -- GeneReviews® (2016) (2)
Genes in search of diseases (2001) (2)
Systemic Primary Carnitine Deficiency -- GeneReviews(®) (2016) (2)
Retinitis Pigmentosa Overview -- GeneReviews(®) (2016) (2)
Myotonic dystrophy associated with Down syndrome (trisomy 21) (1981) (2)
Corrigendum to “Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation” [Neurosci. Lett. 487 (2011) 287–292] (2011) (2)
Nine families with the SCA3/Machado-Joseph disease type of inherited ataxia (1996) (2)
Ehlers-Danlos Syndrome, Kyphoscoliotic Form -- GeneReviews(®) (2016) (2)
Hypohidrotic Ectodermal Dysplasia -- GeneReviews® (2016) (2)
Correction: Genetic data and cognitively defined late-onset Alzheimer’s disease subgroups (2019) (2)
Is the Arg5His MAPT variant pathogenic for dementia and motor neuron disease? (2011) (2)
Ethical Issues in Genetic Testing for Movement Disorders (2003) (1)
Alport Syndrome and Thin Basement Membrane Nephropathy -- GeneReviews(®) (2016) (1)
Poems: Huntington's Disease. (1994) (1)
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation -- GeneReviews(®) (2016) (1)
EXOSC3-Related Pontocerebellar Hypoplasia -- GeneReviews(®) (2016) (1)
EPB42-Related Hereditary Spherocytosis -- GeneReviews(®) (2016) (1)
Berardinelli-Seip Congenital Lipodystrophy -- GeneReviews(®) (2016) (1)
Familial Paroxysmal Nonkinesigenic Dyskinesia -- GeneReviews® (2016) (1)
Pol III-Related Leukodystrophies -- GeneReviews(®) (2016) (1)
The Organic Acidemias: An Overview -- GeneReviews(®) (2015) (1)
Best Vitelliform Macular Dystrophy -- GeneReviews(®) (2016) (1)
COL1A1/2-Related Osteogenesis Imperfecta -- GeneReviews(®) (2016) (1)
Charcot-Marie-Tooth type IA with 17p11.2–12 duplication predisposes to severe vincristine neuropathy (1994) (1)
A proposed classification for familial Alzheimer's disease A clinical-pathological analysis of 30 multigeneration pedigrees (1989) (1)
Polycystic Kidney Disease, Autosomal Recessive -- GeneReviews(®) (2016) (1)
Alzheimer's disease. Dominant susceptibility genes. (1990) (1)
Woodhouse-Sakati Syndrome -- GeneReviews® (2016) (1)
Common Variable Immune Deficiency Overview -- GeneReviews(®) (2014) (1)
Thoracic Aortic Aneurysms and Aortic Dissections -- GeneReviews(®) (2016) (1)
Reply— (2000) (1)
Neurogenetics: Five new things. (2011) (1)
MYH9-Related Disorders -- GeneReviews(®) (2016) (1)
Cognitive andpersonality function inmyotonic muscular dystrophy (1983) (1)
Inherited peroneal muscular atrophy. (1982) (1)
The Arctic AβPP mutation leads to Alzheimer’s disease pathology with highly variable topographic deposition of differentially truncated Aβ (2013) (1)
Invited comments on the Shostak and Ottman review. (2006) (1)
IPEX Syndrome -- GeneReviews® (2016) (1)
Theophylline and seizures (1992) (1)
Glycine Encephalopathy -- GeneReviews(®) (2016) (1)
Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A ‐related spastic ataxia (2021) (1)
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive -- GeneReviews(®) (2016) (1)
LAMA2-Related Muscular Dystrophy -- GeneReviews® (2016) (1)
n Associated with Neuropathy with LiaMity to P (1993) (1)
Oxymoron or Reality (2017) (1)
Autism Spectrum Disorders -- GeneReviews(®) (2015) (1)
Thoughts on the relationship of the human genome project to neurology. (2001) (1)
New hope for the retarded? (1984) (1)
ANO5-Related Muscle Diseases -- GeneReviews(®) (2016) (1)
Tau Mutations: Genetics and Pathogenetic Mechanisms (2000) (1)
High Frequency of Concomitant Bladder, Bowel, and Sexual Symptoms in Huntington’s Disease: A Self-Reported Questionnaire Study (2021) (1)
Lewy body pathology in familial (presenilin-2) Alzheimer's disease (2000) (1)
MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency -- GeneReviews(®) (2016) (1)
Neurogenetics In The Clinic (2005) (1)
Pantothenate Kinase-Associated Neurodegeneration -- GeneReviews(®) (2016) (1)
Progress in Amyotrophic Lateral Sclerosis Gene Discovery Re ﬂ ecting on Classic Approaches and Leveraging Emerging Technologies (1)
With Clinical Diagnoses of Probable Alzheimer's Disease (1990) (1)
Dent Disease -- GeneReviews(®) (2016) (1)
Myotonia Congenita -- GeneReviews(®) (2015) (1)
Alpha-Thalassemia -- GeneReviews(®) (2016) (1)
Unverricht-Lundborg Disease -- GeneReviews(®) (2016) (1)
Genotype–Phenotype Correlations (2015) (1)
Pancreatitis Overview -- GeneReviews(®) (2016) (1)
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot (2017) (1)
Genetic control of developmental patterns of cerebral enzyme activities: Further differences between C3H and ICR strains of mice (1981) (1)
OPA3-Related 3-Methylglutaconic Aciduria -- GeneReviews(®) (2016) (1)
Congenital Disorders of N-linked Glycosylation Pathway Overview -- GeneReviews(®) (2016) (1)
ADAMTSL4-Related Eye Disorders -- GeneReviews® (2016) (1)
Lack of Detectable Radiation Hypersensitivity in Lymphoblastoid Cells from Multiple Pedigrees of Familial Alzheimer Disease (1993) (1)
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington (2018) (0)
Table 9. [HK1 Pathogenic Variants Discussed in This GeneReview]. (2016) (0)
Table 11. [Selected FIG4 Pathogenic Variants]. (2016) (0)
Table 2. [Selected APP Pathogenic Variants]. (2012) (0)
Table 3. [Selected MPZ Pathogenic Variants]. (2015) (0)
Table 3. [CMT1: Molecular Genetics]. (2016) (0)
Table 7. [CMTX: Molecular Genetics]. (2016) (0)
Figure 2. [Different forms of Charcot-Marie-Tooth disease...]. (2016) (0)
Spinocerebellar Ataxia Associated Psychosis and Tyrosine Hydroxylase Staining of the Midbrain (P2.239) (2016) (0)
Tau and neurodegenerative disease: genetics and pathogenetic mechanisms (2001) (0)
DNA-Methyltransferase1 Mutation Screening in Hereditary Sensory Neuropathy 1 (HSAN1) with Dementia and Hearing Loss, Familial Frontotemporal Dementia and Alzheimer's Disease (S27.006) (2012) (0)
A new disease mimicking Refsum syndrome (2009) (0)
Neurogenetics. Triumphs and challenges. (1994) (0)
[Box], Learn More (karyotype) (2017) (0)
TDP-43 deposition in presenilin mutation-associated Alzheimer's, sporadic Alzheimer's, and non-demented elderly (2009) (0)
ErythrocyteUroporphyrinogenI Synthase Activity in Diagnosisof Acute IntermittentPorphyria (2004) (0)
Table 2. [Selected GJB1 Pathogenic Allelic Variants]. (2016) (0)
Idiopathic intestinal pseudo-obstruction syndromes — a clinicopathological study of six adults ( Abstract ) (1978) (0)
Four siblings with variable clinical and pathological characteristics of Alzheimer's and Lewy body disease (2010) (0)
Amyloid‐Related Imaging Abnormalities in the DIAN‐TU‐001 Trial of Gantenerumab and Solanezumab: Lessons from a Trial in Dominantly Inherited Alzheimer Disease (2022) (0)
GeneReviews Advanced Search Help (2013) (0)
Table 1. [Molecular Genetics of CMT4]. (2016) (0)
Table 6. [Selected NDRG1 Pathogenic Variants]. (2016) (0)
Familial Alzheimer's disease and chromosome 14 (1994) (0)
Historical perspective of defining Charcot-Marie-Tooth type 1B. (1999) (0)
Genetic Diseases of the Nervous System (2009) (0)
[Box], Learn More (carrier testing) (2017) (0)
Table 5. [Selected SH3TC2 Pathogenic Variants]. (2016) (0)
Table 2. [Selected PMP22 Pathogenic Variants]. (2015) (0)
Figure 3. [Known disease genes for CMT...]. (2016) (0)
OBSERVATION Two Novel CACNA 1 A Gene Mutations Associated With Episodic Ataxia Type 2 and Interictal Dystonia (2005) (0)
Medical genetics and clinical neurology: the common ground. (1985) (0)
Short communication Coexistence of tuberous sclerosis and Friedreich ataxia (2004) (0)
Ramsay Hunt syndrome . clinicopathological study of the degeneration : a epilepsy with dentatorubral Progressive myoclonus and (0)
AN INTRON MUTATION IN THE PRION PROTEIN GENE (PRNP) (1999) (0)
The Seattle Alzheimer's disease data set (1993) (0)
Clinical features of familial frontotemporal dementia (2000) (0)
Progressive myoclonus andepilepsy withdentatorubral degeneration: aclinicopathologi cal study ofthe RamsayHuntsyndrome (1978) (0)
Table 4. [X-linked Cerebellar Ataxias: Molecular Genetics & Clinical Features]. (2016) (0)
Lipomembranous polycysticosteodysplasia (1984) (0)
Where prevention starts. (2022) (0)
Tau mutations and gene expression (2000) (0)
Reviewer Acknowledgment 2016 (2017) (0)
Book Review: Ataxia-Telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood, Kroc Foundation Series, Volume 19, edited by R. A. Gatti and M. Swift. Published in 1985 by Allen R. Liss, New York, 430 pages, $79.00 (1987) (0)
Can late-onset familial Alzheimer's disease be an autosomal dominant Mendelian disorder? (2010) (0)
Table 3. [Selected DMPK Allelic Variants]. (2015) (0)
Late-Onset Huntington’s Disease: A Review of 41 Cases (2008) (0)
Table 1. [Summary of Molecular Genetic Testing Used in ADCY5-Related Dyskinesia]. (2015) (0)
PHENOTYPIC CHARACTERIZATION OF PSI AND PS2 RELATED ALZHEIMERʼS DISEASE (1997) (0)
Is neuropathological heterogeneity in Alzheimer’s disease related to apolipoprotein genotype? (1998) (0)
Exclusion mapping of familial Alzheimer disease (FAD) in the Volga Germans (1994) (0)
What's New in GeneReviews (2017) (0)
Table 4. [Percent of APOE Genotypes in Controls and Individuals with AD]. (2015) (0)
Clinical and Molecular Studies Reveal a PSEN1 Mutation (L153V) in a Peruvian Family with Early-Onset Alzheimer's Disease (P05.072) (2012) (0)
AUTOSOMAL DOMINANT PREDOMINANTLY SPINOPONTINE ATROPHY OR MACHADO‐JOSEPH DISEASE IN ANOTHER NON‐PORTUGESE FAMILY. (Three autopsies from two generations.): 27 (1987) (0)
Table 4. [Selected MTMR2 Pathogenic Variants]. (2016) (0)
Table 1. [Distal Myopathies]. (2016) (0)
Epimerase Deficiency Galactosemia -- GeneReviews(®) (2017) (0)
Peripheral neuropathy with optic atrophy caused by mutations in mitofusin 2 (2005) (0)
Idiopathic progressive spastic paraparesis. (1995) (0)
Neurogenetics: The future of neurogenetics (2012) (0)
Ventilatory support in facioscapulohumeral muscular dystrophy [4] (multiple letters) (2005) (0)
Alzheimer' sD isease Genetics (2014) (0)
Reply (2001) (0)
3q29 Recurrent Deletion -- GeneReviews(®) (2017) (0)
The molecular and genetic basis of neurological disease. (1993) (0)
Download/Link to GeneReviews (2013) (0)
Table 2. [Single-Gene Causes of CMT Hereditary Neuropathy]. (2016) (0)
Huntington Disease Through the Prism of History and Social Anthropology (2009) (0)
Phenotypes and genotypes in presenilin 2 (PSEN2) mutations (2009) (0)
Likely Underrecognized Mosaicism in Genetic Disease: High Frequency of Mosaic Mutations in ADCY5-Related Dyskinesia (P5.398) (2016) (0)
P4-200 The psychological impact of susceptibility versus deterministic genetic testing for Alzheimer’s disease (2006) (0)
Table 3. [Additional Disorders to Consider in...]. (2016) (0)
Figure 1. [Genetic diagnoses in CMT and related disordersFrom Rossor et al [2013]; reprinted with permission]. (2015) (0)
Table 2. [Allelic Disorders]. (2016) (0)
Neurologic disorders (2020) (0)
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations. (2022) (0)
Molecular genetics in neurologic diseases. (1993) (0)
Table 4. [CMT2: Molecular Genetics]. (2016) (0)
Table 1. [Summary of Molecular Genetic Testing Used in CMTX1]. (2016) (0)
Absence of proteolipid protein expression causes an inherited demyelinating peripheral neuropathy (1997) (0)
Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra (2017) (0)
Reader Response: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease (2022) (0)
TOMM40 Poly-T Length Variant and Age-At-Onset in Familial AD Caused by PSEN1 and PSEN2 Mutation (2011) (0)
Table 1. [Causes of Alzheimer Disease]. (2015) (0)
SEVERAL CASES OF TUMORS FROM NEURAL STEM CELL TRANSPLANTS (2009) (0)
Table 3. [Early-Onset Familial Alzheimer Disease (EOFAD): Molecular Genetics]. (2015) (0)
For Prospective GeneReviews Authors (2013) (0)
DISEASE SUBJECTS WITH PRESENILIN 1 MUTATIONS (0)
Oculopharyngeal Muscular Dystrophy -- GeneReviews® (2015) (0)
Appendix: Interpretation of Genomic Test Results (2015) (0)
Peripheral neuropathy caused by proteolipid protein gene mutations. (1999) (0)
Table 1. [Summary of Molecular Genetic Testing Used in HNPP]. (2014) (0)
Table 5. [APOE Allele Frequencies in Controls and Individuals with AD]. (2015) (0)
Serotonin in essential myoclonus. (1977) (0)
P3-272: Genome scan for age-at-onset loci in the National Institutes of Mental Health Alzheimer's disease sample (2008) (0)
Table 3. [Selected GDAP1 Pathogenic Variants]. (2016) (0)
Subdural Hematoma as a Serious Complication of Huntington's Disease: An Observational Study. (2021) (0)
Table 2. [Selected PMP22 Pathogenic Allelic Variants]. (2014) (0)
Problems and limitations in studying a genetic component of Alzheimer's disease (1986) (0)
Table 2. [Confirmed Familial and Simplex Cases of ADCY5-Related Dyskinesia]. (2015) (0)
Genetic Diseases of the Nervous System (2019) (0)
Table 5. [Autosomal Dominant Intermediate CMT: Molecular Genetics]. (2016) (0)
Olivopontocerebellar atrophy (1995) (0)
Genome-wide linkage analyses of non-Hispanic White families identifies novel loci for familial late-onset Alzheimer ' s disease (2016) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Early-Onset Familial Alzheimer Disease]. (2012) (0)
Congenital insensitivity to pain with anhidrosis (2015) (0)
Comment (2006) (0)
Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression. (2021) (0)
Genome Maps and Neurological Disorders. (1994) (0)
Four siblings with Variable Clinical and Pathological Characteristics of Alzheimer's and Lewy Body Disease (2010) (0)
Genetic factors in alzheimer disease and dementia (2010) (0)
Nineteen year EMG/nerve conduction study follow-up of a family with X-linked neuropathy (1996) (0)
Table 2. [Episodic Ataxias: Molecular Genetics & Clinical Features]. (2016) (0)
Updates on the Genetics of Neurodegenerative Disorders (2010) (0)
GeneReviews — Contact Us (2013) (0)
Table 8. [Selected PRX Pathogenic Variants]. (2016) (0)
Table 6. [CMT 4: Molecular Genetics]. (2016) (0)
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice (2020) (0)
Reply (1995) (0)
Table 6. [Selected NEFL Pathogenic Variants]. (2015) (0)
Table 1a. [CMT2 Subtypes: Most Common Genetic Causes]. (2016) (0)
Neuropathological findings in patients with diagnoses of probable Alzheimer??s disease (1991) (0)
Dear America: Letters Home from Vietnam. Prod. by Bill Couturie and Thomas Bird. Home Box Office, Inc., 1987. 85 mins. (Ambrose Video Publishing, Inc., Dept. 1189G, 381 Park Ave. South, Suite 1601, New York, NY 10157) (1990) (0)
Genetic Testing, Molecular (2003) (0)
[Box], Learn More (carrier) (2017) (0)
Erratum: Huntington's disease-like 2 (HDL2) in North America and Japan (Annals of Neurology (November 2004) 56 (670-674)) (2004) (0)
Table 10. [Selected FGD4 Pathogenic Variants]. (2016) (0)
Figure 1. [Genetic diagnoses in CMT and...]. (2015) (0)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
Table 3. [Selected PSEN1 Pathogenic Variants]. (2012) (0)
MAPT haplotypes modify the association between head injury and risk of Alzheimer’s disease (2015) (0)
Reply (1995) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Spinocerebellar Ataxia Type 14]. (2013) (0)
How to Link to GeneReviews (2013) (0)
GeneReviews Illustrated Glossary Instructions (2013) (0)
Table 5. [Disorders with Spasticity and Cerebellar Ataxia: Molecular Genetics & Clinical Features]. (2016) (0)
Major patterns of human inheritance (1994) (0)
FLNA-Related Periventricular Nodular Heterotopia -- GeneReviews(®) (2017) (0)
Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. (2022) (0)
Multilocus genotype pattern at PICALM, CLU and APOE genes is associated with episodic memory in the NIA-LOAD/NCRAD study (2011) (0)
Update – Inherited Neuropathies Consortium (P05.144) (2012) (0)
Resistance and resilience to Alzheimer’s disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort (2019) (0)
Genetic testing. (1998) (0)
Table 1b. [CMT2 Subtypes: Less Common Genetic Causes]. (2016) (0)
Table 3. [ADCY5 Pathogenic Variants Discussed in This GeneReview]. (2015) (0)
Figure 1. [Worldwide distribution of SCA subtypes...]. (2016) (0)
Appendix: About Resources Listed in GeneReviews (2017) (0)
A Novel Spinocerebellar Ataxia With Hematologic Cytopenias: Linkage Analysis And Exome Sequencing Identifies A Candidate Gene (P6.058) (2014) (0)
AGED ALZHEIMER’S DISEASE BRAINS EXHIBIT NUMEROUS Aβ BUT ONLY FEW TAU PRIONS (2018) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Myotonic Dystrophy Type 1]. (2015) (0)
Table 7. [Selected EGR2 Pathogenic Variants]. (2015) (0)
Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration (2018) (0)
ε 4 POTENTIATES THE RELATIONSHIP BETWEEN AMYLOID- b AND TAU PATHOLOGIES IN A DOSE- DEPENDENT MANNER (2018) (0)
P4-285 Insulin degrading enzyme immunostaining is decreased in the hippocampus of familial Alzheimer's disease subjects with presenilin 1 mutations (2004) (0)
Table 4. [Selected LITAF Pathogenic Variants]. (2015) (0)
Two Novel Mutations in ABHD12 Expand the Mutation Spectrum in PHARC (P05.141) (2012) (0)
[Box], Learn More (consanguineous) (2017) (0)
Genetics and Genomics of Neurobehavioral Disorders (2004) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Charcot-Marie-Tooth Neuropathy Type 1 (CMT1)]. (2015) (0)
Neurogenetics new things (2011) (0)
Familial dyskinesia and facial myokymia (2002) (0)
P3-199 The glutamate transporter, EAAT3 (EAAC1), is aberrantly expressed in hippocampus of individuals with Alzheimer’s disease (2006) (0)
TUBB4A-Related Leukodystrophy -- GeneReviews(®) (2017) (0)
GeneReviews — Review Processes (2013) (0)
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease (2018) (0)
RFLP detected by a genomic probe from the human X-linked proteolipid protein gene, PLP. (1992) (0)
[Box], Learn More (recombination) (2017) (0)
O4-06-04 Familial dementia with Lewy bodies (2004) (0)
Erratum: Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region (Human Genetics (1991) 88 (1-12)) (1993) (0)
Age-specific incidence rates of Alzheimer's disease in family members participating in the NIA-LOAD genetics study (2013) (0)
Table 1. [Autosomal Dominant Cerebellar Ataxias: Molecular Genetics & Clinical Features]. (2016) (0)
A Novel Neurodegenerative Disorder Characterized by Dentatorubrothalamic and Corticospinal Tract Degeneration (P05.025) (2012) (0)
Table 3. [Autosomal Recessive Cerebellar Ataxias: Single Gene Disorders]. (2016) (0)
Clinical characterization and linkage analysis of a novel X-linked distal spinal muscular atrophy/hereditary motor neuropathy syndrome (2009) (0)
Table 2. [Late-Onset Familial Alzheimer Disease: Molecular Genetics]. (2015) (0)
IPSC-DERIVED CORTICAL NEURONS WITH A NOVEL FRAMESHIFT PSEN2 MUTATION INCREASE THE RATIO OF AGGREGATE PRONE AMYLOID BETA (2018) (0)
600 Genetic analysis of familial Alzheimer's disease (1996) (0)
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2020) (0)
[Box], Learn More (Robertsonian translocation) (2017) (0)
Myotonic disorder without myotonia? (2009) (0)
Table 2. [Correlation of Phenotype and CTG Repeat Length in Myotonic Dystrophy Type 1]. (2015) (0)
World-wide distribution of familial Alzheimer's disease (1992) (0)

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