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

Corien C. Verschuuren-Bemelmans; Ewout R. P. Brunt; Margaret Burton; Rob G. J. Mensink; Martin A. van der Meulen; Nico H. Smit; Irene Stolte-Dijkstra; Charles H. C. M. Buys; Hans Scheffer

doi:10.1007/bf00210301

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

Human Genetics ◽

10.1007/bf00210301 ◽

1995 ◽

Vol 96 (6) ◽

pp. 691-694 ◽

Cited By ~ 9

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

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

Brain ◽

10.1093/brain/116.6.1497 ◽

1993 ◽

Vol 116 (6) ◽

pp. 1497-1508 ◽

Cited By ~ 26

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

Human Genetics ◽

10.1007/s004390050114 ◽

1996 ◽

Vol 97 (5) ◽

pp. 671-676 ◽

Cited By ~ 1

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

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

Journal of Neurology ◽

10.1007/s004150050369 ◽

1999 ◽

Vol 246 (5) ◽

pp. 389-393 ◽

Cited By ~ 30

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

Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3

Brain ◽

10.1093/brain/121.9.1687 ◽

1998 ◽

Vol 121 (9) ◽

pp. 1687-1693 ◽

Cited By ~ 120

Author(s):

T Klockgether

Keyword(s):

Basal Ganglia ◽

Cerebellar Ataxia ◽

Posterior Fossa ◽

Spinocerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia ◽

Type I

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

Brain ◽

10.1093/brain/119.5.1497 ◽

1996 ◽

Vol 119 (5) ◽

pp. 1497-1505 ◽

Cited By ~ 167

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

Journal of the Neurological Sciences ◽

10.1016/0022-510x(96)00177-3 ◽

1996 ◽

Vol 142 (1-2) ◽

pp. 140-147 ◽

Cited By ~ 23

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

Journal of Neurology ◽

10.1007/s004150050081 ◽

1997 ◽

Vol 244 (4) ◽

pp. 256-261 ◽

Cited By ~ 19

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

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

Human Molecular Genetics ◽

10.1093/hmg/2.9.1483 ◽

1993 ◽

Vol 2 (9) ◽

pp. 1483-1485 ◽

Cited By ~ 6

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

Annals of Neurology ◽

10.1002/ana.410350411 ◽

1994 ◽

Vol 35 (4) ◽

pp. 439-444 ◽

Cited By ~ 43

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 ◽

10.1093/brain/118.6.1573 ◽

1995 ◽

Vol 118 (6) ◽

pp. 1573-1581 ◽

Cited By ~ 126

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