Spinocerebellar ataxia type 1

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 citations

Tight control of gene expression in mammalian cells by tetracycline-responsive promoters.

1992 • 4,885 citations

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

1991 • 2,763 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

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

1994 • 721 citations

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

1995 • 582 citations

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

1993 • 473 citations

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

1994 • 369 citations

Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

1995 • 294 citations

A Promoter That Drives Transgene Expression in Cerebellar Purkinje and Retinal Bipolar Neurons

1990 • 282 citations

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

1993 • 278 citations

The Spino-Cerebellar Degenerations

1955 • 235 citations

The Spino‐Cerebellar Degenerations

1955 • 224 citations

HEREDITARY ATAXIA

1950 • 172 citations

Spinocerebellar Ataxia and HLA Linkage

1977 • 166 citations

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

1994 • 162 citations

The olivopontocerebellar atrophies.

1984 • 151 citations

Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype

1995 • 133 citations

Hereditary Ataxia and HL-A Genotypes

1974 • 130 citations

Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred

1988 • 124 citations

Purkinje cell protein-2 regulatory regions and transgene expression in cerebellar compartments.

1991 • 124 citations

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

2002 • 120 citations

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

1994 • 111 citations

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.

1991 • 96 citations

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

1995 • 84 citations

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias

1993 • 84 citations

Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p.

1991 • 82 citations

Olivopontocerebellar Degeneration

1974 • 73 citations

The neuropathology of olivopontocerebellar atrophy.

1984 • 54 citations

The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study

1994 • 44 citations

The Purkinje Cell and its Afferents in Human Hereditary Ataxia

1991 • 44 citations

Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb

1993 • 44 citations

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.

1993 • 27 citations

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus

1993 • 7 citations