Published in Neurology on December 01, 1984
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Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am J Hum Genet (1987) 1.55
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J Med Genet (1994) 1.54
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet (1991) 1.53
Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. Am J Hum Genet (1991) 1.43
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Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet (1989) 1.14
Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. Am J Hum Genet (1991) 1.05
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am J Hum Genet (1993) 0.94
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SCA1-phosphorylation, a regulator of Ataxin-1 function and pathogenesis. Prog Neurobiol (2012) 0.80
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Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science (1993) 33.32
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature (1995) 13.80
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
The myoD gene family: nodal point during specification of the muscle cell lineage. Science (1991) 9.53
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet (1998) 4.89
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet (1999) 4.15
Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA (1997) 4.00
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet (1994) 3.89
The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science (1987) 3.59
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med (1991) 3.45
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell (1987) 3.11
An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet (1999) 3.07
ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative. Neurology (1997) 3.04
Association of mammographically defined percent breast density with epidemiologic risk factors for breast cancer (United States). Cancer Causes Control (2000) 2.85
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80
Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA (2001) 2.79
Risk of recurrent seizures after two unprovoked seizures. N Engl J Med (1998) 2.74
HLA and mate choice in humans. Am J Hum Genet (1997) 2.66
A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. Arch Ophthalmol (1997) 2.64
A DNA segment encoding two genes very tightly linked to Huntington's disease. Science (1987) 2.63
Oxidative damage in Alzheimer's. Nature (1996) 2.55
Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis. Neurology (2004) 2.50
Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology (2006) 2.38
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA (2001) 2.36
Head injury and the risk of AD in the MIRAGE study. Neurology (2000) 2.34
Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell (2001) 2.33
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. Am J Hum Genet (1967) 2.32
Clustering of multiallele DNA markers near the Huntington's disease gene. J Clin Invest (1989) 2.25
Seizure recurrence after a first unprovoked seizure. N Engl J Med (1982) 2.23
Genetic analysis of mammographic breast density in adult women: evidence of a gene effect. J Natl Cancer Inst (1997) 2.21
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. N Engl J Med (2001) 2.16
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA (2000) 2.08
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet (1986) 2.07
HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am J Hum Genet (2003) 2.02
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat Genet (1999) 2.01
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science (1990) 1.99
Linkage analysis between the major histocompatibility system and insulin-dependent diabetes in families with patients in two consecutive generations. J Clin Invest (1980) 1.90
Genome-wide association study of Alzheimer's disease. Transl Psychiatry (2012) 1.88
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet (1992) 1.84
Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet (2000) 1.82
Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia. Neurosci Lett (1992) 1.82
Recombination events suggest potential sites for the Huntington's disease gene. Neuron (1989) 1.82
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell (1992) 1.80
Genetic linkage map of human chromosome 21. Genomics (1988) 1.79
Seizure recurrence after a 1st unprovoked seizure: an extended follow-up. Neurology (1990) 1.76
Identification of novel genes in late-onset Alzheimer's disease. Exp Gerontol (2000) 1.74
Huntington disease: no evidence for locus heterogeneity. Genomics (1989) 1.70
Dementia of the Alzheimer type. Clinical genetics, natural history, and associated conditions. Arch Gen Psychiatry (1981) 1.67
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature (1987) 1.57
Genetic linkage studies in Alzheimer's disease families. Exp Neurol (1988) 1.57
Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. Am J Med Genet B Neuropsychiatr Genet (2004) 1.56
Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans. Genes Immun (2006) 1.56
A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet (1996) 1.55
Seizures and myoclonus in patients with Alzheimer's disease. Neurology (1986) 1.53
Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res (1988) 1.51
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology (2001) 1.51
Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. Genomics (1994) 1.50
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology (1996) 1.50
The linkage relationships of the beta and delta hemoglobin genes. Hemoglobin (1977) 1.47
HLA and disease: predictions for HLA haplotype sharing in families. Am J Hum Genet (1981) 1.44
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet (1998) 1.44
Genetic basis for clinical expression in multiple sclerosis. Brain (2002) 1.43
Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. Am J Hum Genet (1991) 1.43
Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nat Genet (1995) 1.43
Pycnodysostosis. Clinical and genetic considerations. Am J Dis Child (1968) 1.43
Proceedings: Population differences in meiotic recombination frequency between loci on chromosome 1. Cytogenet Cell Genet (1974) 1.41
Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature (1989) 1.40
Human serum albumin: twenty-three genetic variants and their population distribution. Ann Hum Genet (1973) 1.40
Id: a negative regulator of helix-loop-helix DNA binding proteins. Control of terminal myogenic differentiation. Ann N Y Acad Sci (1990) 1.39
Gene frequencies and microdifferentiation among the Makiritare Indians. II. Seven serum protein systems. Am J Hum Genet (1970) 1.39
Analysis of linkage between the major histocompatibility system and juvenile, insulin-dependent diabetes in multiplex families. Reanalysis of data. J Clin Invest (1978) 1.38
Human leukocyte antigen matching and fetal loss: results of a 10 year prospective study. Hum Reprod (1998) 1.38
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet (1994) 1.38
Presenilin-1 polymorphism and Alzheimer's disease. Lancet (1996) 1.38
Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity. Z Kinderheilkd (1970) 1.38
Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Hum Genet (1992) 1.37
Inherited pericentric inversion of chromosome number two: a linkage study. Ann Hum Genet (1969) 1.37
A genetic linkage map of the long arm of human chromosome 22. Genomics (1989) 1.37
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet (1993) 1.36
The genetic structure of a tribal population, the Yanomama Indians. 3. Seven serum protein systems. Ann Hum Genet (1972) 1.36
Parental HLA compatibility, fetal wastage and neural tube defects: evidence for a T/t-like locus in humans. Am J Hum Genet (1984) 1.36
A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age. Am J Hum Genet (1992) 1.36
Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry (2005) 1.36
Additional data on the population distribution of human serum albumin genes; three new variants. Ann Hum Genet (1973) 1.35
Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation. Neurology (1997) 1.35
Serum proteins, hemoglobins and erythrocyte enzymes of Brazilian Cayapo Indians. Hum Biol (1972) 1.31
Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis (2000) 1.31
The relation of parental sex and age to recombination in the HL-A system. Hum Hered (1973) 1.30
Apolipoprotein E controls the risk and age at onset of Parkinson disease. Neurology (2004) 1.28
Genetic linkage between structural loci for albumin and group specific component (Gc). Am J Hum Genet (1966) 1.28
Cytochemical demonstration of oxidative damage in Alzheimer disease by immunochemical enhancement of the carbonyl reaction with 2,4-dinitrophenylhydrazine. J Histochem Cytochem (1998) 1.27
Amino acid substitution in two identical inherited human serum albumin variants: albumin Oliphant and albumin Ann Arbor. Biochemistry (1972) 1.27
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A (1986) 1.27
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet (1998) 1.26
Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity. Am J Hum Genet (2000) 1.26
Delayed replication timing leads to delayed mitotic chromosome condensation and chromosomal instability of chromosome translocations. Proc Natl Acad Sci U S A (2001) 1.26