Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
LG Gouw, MA Castañeda, CK McKenna… - Human molecular …, 1998 - academic.oup.com
The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract
that is expanded in SCA7 patients. We have determined expansions in 73 individuals from …
that is expanded in SCA7 patients. We have determined expansions in 73 individuals from …
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
M Chung, LPW Ranum, LA Duvick, A Servadio… - Nature …, 1993 - nature.com
Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease
caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles …
caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles …
Spinocerebellar ataxia type 2: genotype and phenotype in German kindreds
L Schöls, S Gispert, M Vorgerd… - Archives of …, 1997 - jamanetwork.com
Background: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar
ataxia (ADCA) for which the disease-causing mutation has recently been characterized as …
ataxia (ADCA) for which the disease-causing mutation has recently been characterized as …
Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families
YX Zhou, GX Wang, BS Tang, WD Li, DA Wang… - Neurology, 1998 - AAN Enterprises
Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were
heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats …
heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats …
Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families
The autosomal dominant late onset spinocerebellar ataxias (SCAs) are genetically
heterogeneous. Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been …
heterogeneous. Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been …
SCA2 trinucleotide expansion in German SCA patients
O Riess, FA Laccone, S Gispert, L Schöls, C Zühlke… - Neurogenetics, 1997 - Springer
Autosomal dominant spinocerebellar ataxias (SCA) are a group of clinically and genetically
heterogeneous neurodegenerative disorders which lead to progressive cerebellar ataxia. A …
heterogeneous neurodegenerative disorders which lead to progressive cerebellar ataxia. A …
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental …
T Matilla, V Volpinl, D Genis, J Rosell… - Human molecular …, 1993 - academic.oup.com
Autosomal dominant cerebellar ataxia type 1 (ADCA1) is a clinical and genetic
heterogeneous neurodegenerative disorder which leads to progressive cerebellar ataxia …
heterogeneous neurodegenerative disorder which leads to progressive cerebellar ataxia …
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology
Major advances have been made in the understanding of autosomal dominant cerebellar
ataxias since genetic markers came into use in the 1980s. The subsequent mapping of nine …
ataxias since genetic markers came into use in the 1980s. The subsequent mapping of nine …
SCA3: neurological features, pathogenesis and animal models
O Riess, U Rüb, A Pastore, P Bauer, L Schöls - The Cerebellum, 2008 - Springer
The most frequent subtype of autosomal dominant inherited spinocerebellar ataxias is
caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical …
caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical …
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
SM Pulst, A Nechiporuk, T Nechiporuk, S Gispert… - Nature …, 1996 - nature.com
The gene for spinocerebellar ataxia type 2 (SCA2) has been mapped to 12q24. 1. A1. 1–
megabase contig in the candidate region was assembled in P1 artificial chromosome and …
megabase contig in the candidate region was assembled in P1 artificial chromosome and …