Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

1999 ◽  
Vol 246 (5) ◽  
pp. 389-393 ◽  
Author(s):  
Davide Pareyson ◽  
Cinzia Gellera ◽  
Barbara Castellotti ◽  
Antonella Antonelli ◽  
Maria Concetta Riggio ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I ◽  
Molecular Studies

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

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

scholarly journals Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3

Brain ◽  
1996 ◽  
Vol 119 (5) ◽  
pp. 1497-1505 ◽  
Author(s):  
K. Bürk ◽  
M. Abele ◽  
M. Fetter ◽  
J. Dichgans ◽  
M. Skalej ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Features ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I

Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

1996 ◽  
Vol 142 (1-2) ◽  
pp. 140-147 ◽  
Author(s):  
Alessandro Filla ◽  
Giuseppe De Michele ◽  
Giuseppe Campanella ◽  
Anna Perretti ◽  
Lucio Santoro ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Molecular Study ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I

Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus

1997 ◽  
Vol 244 (4) ◽  
pp. 256-261 ◽  
Author(s):  
K. Bürk ◽  
G. Stevanin ◽  
O. Didierjean ◽  
G. Cancel ◽  
Y. Trottier ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I

Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I

1995 ◽  
Vol 96 (6) ◽  
pp. 691-694 ◽  
Author(s):  
Corien C. Verschuuren-Bemelmans ◽  
Ewout R. P. Brunt ◽  
Margaret Burton ◽  
Rob G. J. Mensink ◽  
Martin A. van der Meulen ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Candidate Region ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I ◽  
The Third ◽  
Large Families

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus

1993 ◽  
Vol 2 (9) ◽  
pp. 1483-1485 ◽  
Author(s):  
Glovanni Stevanin ◽  
Hervé Chnelweiss ◽  
Eric Le Guern ◽  
Nicola Ravise ◽  
Alexandra Dürr ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I

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

1994 ◽  
Vol 35 (4) ◽  
pp. 439-444 ◽  
Author(s):  
A. Benomar ◽  
E. Le Guern ◽  
A. Dürr ◽  
H. Ouhabi ◽  
G. Stevanin ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I ◽  
Type Ii

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

Brain ◽  
1995 ◽  
Vol 118 (6) ◽  
pp. 1573-1581 ◽  
Author(s):  
Alexandra Dürr ◽  
Didier Smadja ◽  
Géraldine Cancel ◽  
Agnès Lezin ◽  
Giovanni Stevanin ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
West Indies ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I ◽  
French West Indies
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