Unstable mutations and neurodegenerative disorders

Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice

1996 • 3,012 citations

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

1996 • 2,667 citations

Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation

1997 • 2,184 citations

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

1993 • 1,596 citations

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

1997 • 1,571 citations

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

1994 • 1,122 citations

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

1996 • 1,081 citations

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

1996 • 1,038 citations

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

1997 • 914 citations

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

1995 • 843 citations

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

1996 • 824 citations

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

1997 • 752 citations

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

1996 • 745 citations

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

1994 • 721 citations

Inactivation of the Mouse Huntington's Disease Gene Homolog Hdh

1995 • 705 citations

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

1995 • 646 citations

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

1995 • 582 citations

Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo

1996 • 546 citations

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1997 • 475 citations

Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features

1996 • 430 citations

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

1994 • 415 citations

Homozygotes for Huntington's disease

1987 • 356 citations

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

1997 • 344 citations

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

1995 • 301 citations

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

1997 • 268 citations

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

1997 • 254 citations

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

1993 • 250 citations

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

1995 • 205 citations

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

1995 • 188 citations

Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1

1995 • 187 citations

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

1995 • 179 citations

Dentatorubral‐pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

1995 • 164 citations

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

1995 • 154 citations

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

1995 • 143 citations

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy

1995 • 140 citations

Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight familes

1994 • 139 citations

Transgenic models of Huntington's disease

1997 • 112 citations

An expanded CAG repeat sequence in spinocerebellar ataxia type 7.

1996 • 104 citations

Dopa‐responsive parkinsonism phenotype of Machado‐Joseph disease: Confirmation of 14q CAG expansion

1995 • 100 citations

Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)

1995 • 77 citations

A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four european families

1995 • 72 citations

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

1996 • 68 citations

Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

1994 • 64 citations

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado‐joseph disease

1996 • 62 citations

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease

1998 • 61 citations

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1linked to the SCA2 locus

1994 • 59 citations

Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.

1994 • 53 citations

Mutation analysis in patients with possible but apparently sporadic Huntington's disease

1994 • 51 citations

'Pseudo-dominant' inheritance in Friedreich's ataxia.

1981 • 47 citations

Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family

1995 • 45 citations

Diagnosis of “sporadic” Huntington's disease

1995 • 28 citations

Expanded glutamines and neurodegeneration – a gain of insight

1996 • 26 citations