SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

2001 ◽  
Vol 49 (1) ◽  
pp. 117-121 ◽  
Author(s):  
Hiroto Fujigasaki ◽  
Ishwar C. Verma ◽  
Agn�s Camuzat ◽  
Russell L. Margolis ◽  
Cecilia Zander ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Indian Family

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

2008 ◽  
Vol 7 (2) ◽  
pp. 184-188 ◽  
Author(s):  
Caterina Mariotti ◽  
Alfredo Brusco ◽  
Daniela Di Bella ◽  
Claudia Cagnoli ◽  
Marco Seri ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Slow Progression

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

Brain ◽  
1993 ◽  
Vol 116 (6) ◽  
pp. 1497-1508 ◽  
Author(s):  
A. Durr ◽  
H. Chneiweiss ◽  
C. Khati ◽  
G. Stevanin ◽  
G. Cancel ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Phenotypic Variability ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I

scholarly journals Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

2012 ◽  
Vol 21 (10) ◽  
pp. 2205-2210 ◽  
Author(s):  
Juliane Winkelmann ◽  
Ling Lin ◽  
Barbara Schormair ◽  
Birgitte R. Kornum ◽  
Juliette Faraco ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia

scholarly journals A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

2006 ◽  
Vol 51 (5) ◽  
pp. 461-466 ◽  
Author(s):  
Takako Ohata ◽  
Kunihiro Yoshida ◽  
Haruya Sakai ◽  
Haruka Hamanoue ◽  
Takeshi Mizuguchi ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families

1996 ◽  
Vol 97 (5) ◽  
pp. 671-676 ◽  
Author(s):  
Agnès Lezin ◽  
Géraldine Cancel ◽  
Giovanni Stevanin ◽  
Didier Smadja ◽  
Jean-Claude Vernant ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Cerebellar Ataxia ◽  
West Indies ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I ◽  
French West Indies
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