Differential distribution of the normal and mutated forms of huntingtin in the human brain

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

1993 • 7,941 citations

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

1991 • 2,763 citations

Neuropathological Classification of Huntingtonʼs Disease

1985 • 2,517 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

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

1997 • 1,571 citations

Melanized dopaminergic neurons are differentially susceptible to degeneration in Parkinson's disease

1988 • 1,235 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

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

Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

1995 • 774 citations

Selective Sparing of a Class of Striatal Neurons in Huntington's Disease

1985 • 767 citations

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

1996 • 745 citations

Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

1995 • 736 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

A huntingtin-associated protein enriched in brain with implications for pathology

1995 • 597 citations

Widespread expression of Huntington's disease gene (IT15) protein product

1995 • 516 citations

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

1995 • 445 citations

Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH

1996 • 435 citations

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

1994 • 415 citations

Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

1993 • 411 citations

Homozygotes for Huntington's disease

1987 • 356 citations

Huntington's disease gene (IT15) is widely expressed in human and rat tissues

1993 • 338 citations

Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease

1991 • 308 citations

Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies.

1995 • 299 citations

Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat

1994 • 266 citations

Huntington’s Chorea

1981 • 254 citations

Sparing of acetylcholinesterase-containing striatal neurons in Huntington's disease

1987 • 253 citations

Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals

1995 • 223 citations

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

1994 • 202 citations

CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain

1995 • 180 citations

Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin.

1996 • 159 citations

Expression of the Huntington's disease (IT15) protein product in HD patients

1995 • 105 citations

Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain

1996 • 85 citations

BRAIN GLUTAMATE DECARBOXYLASE IN PARKINSON'S DISEASE WITH PARTICULAR REFERENCE TO A PREMORTEM SEVERITY INDEX

1985 • 76 citations

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease

1993 • 72 citations

Compartmental ordering of cholinergic innervation in the mediodorsal nucleus of the thalamus in human brain

1990 • 22 citations