The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

D Lorenzetti, S Bohlega, HY Zoghbi - Neurology, 1997 - AAN Enterprises
The autosomal dominant spinocerebellar ataxias (ADSCAs) are a heterogeneous group of
late-onset neurodegenerative disorders with overlapping clinical features. Genetic linkage …
被引用次数：101 相关文章 所有 7 个版本

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

RP Grewal, E Tayag, KP Figueroa, L Zu, A Durazo… - Neurology, 1998 - AAN Enterprises
Objective: To characterize a distinct form of spinocerebellar ataxia (SCA) clinically and
genetically. Background: The SCAs are a genetically heterogeneous group of …
被引用次数：77 相关文章 所有 7 个版本

An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia

S Costanzi-Porrini, D Tessarolo, C Abbruzzese… - Neurology, 2000 - AAN Enterprises
Article abstract In spinocerebellar ataxia type 2 (SCA-2), a difference of three CAG repeats
distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All …
被引用次数：44 相关文章 所有 7 个版本

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

O Dubourg, A Dürr, G Cancel… - Annals of Neurology …, 1995 - Wiley Online Library
Autosomal dominantly inherited ataxias are a clinically and genetically heterogeneous
group of neurodegenerative disorders. The gene involved in one subtype, spinocerebellar …
被引用次数：116 相关文章 所有 6 个版本

Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

R Matsumura, N Futamura, Y Fujimoto, S Yanagimoto… - Neurology, 1997 - AAN Enterprises
Spinocerebellar ataxia type 6 (SCA6) is a newly classified autosomal-dominant cerebellar
ataxia (ADCA) associated with CAG repeat expansion. We screened 111 patients with …
被引用次数：189 相关文章 所有 7 个版本

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

S Banfi, A Servadio, M Chung, TJ Kwiatkowski Jr… - Nature …, 1994 - nature.com
Abstract Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by
expansion of a CAG trinucleotide repeat. In this study, we describe the identification and …
被引用次数：437 相关文章 所有 9 个版本
[PDF] nih.gov

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

LPW Ranum, MY Chung, S Banfi, A Bryer… - American journal of …, 1994 - ncbi.nlm.nih.gov
The spinocerebellar ataxias are a group of debilitating neurodegenerative diseases for
which a clinical classification system has proved unreliable. We have recently isolated the …
被引用次数：223 相关文章 所有 11 个版本

Transmission distortion of the mutant alleles in spinocerebellar ataxia

O Riess, JT Epplen, G Amoiridis, H Przuntek, L Schöls - Human genetics, 1997 - Springer
Spinocerebellar ataxia type 1 and type 3 (SCA1, SCA3) are autosomal dominant
neurodegenerative disorders caused by expanded CAG trinucleotide repeats in novel …
被引用次数：43 相关文章 所有 11 个版本

[引用][C] A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

F Quan, J Janas, BW Popovich - Human molecular genetics, 1995 - academic.oup.com
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant, neurodegenerative
disorder characterized by the progressive loss of neurons from the cerebellum, brain stem …
被引用次数：79 相关文章 所有 8 个版本

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

D Devos, S Schraen–Maschke, I Vuillaume… - Neurology, 2001 - AAN Enterprises
Background: The autosomal dominant cerebellar ataxias (ADCA) are a clinically
heterogeneous group of disorders. The mutations for SCA1, SCA2, SCA3, SCA6, SCA7 …
被引用次数：100 相关文章 所有 8 个版本