scholarly journals Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants

2020 ◽  
Author(s):  
Xiaohui Duan ◽  
Ying Hao ◽  
Zhenhua Cao ◽  
Chao Zhou ◽  
Jin Zhang ◽  
...  
Keyword(s):  
Genetic Correlation ◽  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Chinese Patients ◽  
Autosomal Recessive Cerebellar Ataxia

G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

2007 ◽  
Vol 17 (9-10) ◽  
pp. 892
Author(s):  
N. Dupre ◽  
F. Gros-Louis ◽  
N. Chrestian ◽  
D. de Verteuil ◽  
B. Brais ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Study ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

2007 ◽  
Vol 62 (1) ◽  
pp. 93-98 ◽  
Author(s):  
Nicolas Dupré ◽  
François Gros-Louis ◽  
Nicolas Chrestian ◽  
Steve Verreault ◽  
Denis Brunet ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Study ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia

Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Enderli ◽  
B. Heinrich ◽  
P. Joset ◽  
J. De Geyter ◽  
J. Scheer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
Autosomal Recessive Cerebellar Ataxia

scholarly journals Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

2014 ◽  
Vol 17 (4) ◽  
pp. 291-299 ◽  
Author(s):  
Kristof Van Schil ◽  
Françoise Meire ◽  
Marcus Karlstetter ◽  
Miriam Bauwens ◽  
Hannah Verdin ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Autosomal Recessive Cerebellar Ataxia

PEX10 mutation; Autosomal recessive cerebellar ataxia

2017 ◽  
Vol 21 ◽  
pp. e135
Author(s):  
Mehmet Canpolat ◽  
Gül Demet Kaya Ozcora ◽  
Murat Erdoğan ◽  
Hamit Acer ◽  
Sefer Kumandaş
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia
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