Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1991 • 2,763 citations

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1994 • 1,698 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

1993 • 1,596 citations

Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)

1994 • 1,122 citations

Trinucleotide repeat length instability and age of onset in Huntington's disease

1993 • 1,062 citations

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1994 • 721 citations

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I

1993 • 473 citations

Clinical features and classification of inherited ataxias.

1993 • 422 citations

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm

1994 • 415 citations

Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

1992 • 373 citations

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

1994 • 369 citations

The gene for Machado–Joseph disease maps to human chromosome 14q

1993 • 337 citations

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11

1994 • 317 citations

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1

1993 • 278 citations

The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

1993 • 265 citations

Epidemiology and clinical aspects of Machado-Joseph disease.

1993 • 207 citations

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1995 • 205 citations

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

1994 • 202 citations

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

1993 • 188 citations

Mitotic stability of fragile X mutations in differentiated cells indicates early post–conceptional trinucleotide repeat expansion

1993 • 174 citations

Mitotic stability and meiotic variability of the (CAG)_n repeat in the Huntington disease gene

1993 • 163 citations

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

1995 • 145 citations

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

1995 • 134 citations

¿Tienen nuestros resúmenes (abstracts) lo que deben tener? Un análisis de la década 1991-2000

2002 • 120 citations

Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study.

1984 • 110 citations

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

1995 • 84 citations

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

1993 • 43 citations

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

1995 • 34 citations

Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

1994 • 33 citations

Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.

1994 • 31 citations

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 citations