LINKAGE TO CHROMOSOME 13Q11‐12 OF AN AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA IN A TUNISIAN FAMILY

2000 ◽  
Vol 5 (4) ◽  
pp. 241-242
Author(s):  
N Mrissa ◽  
S Belal ◽  
C Ben Hamida ◽  
R Amouri ◽  
I Turki ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia ◽  
Tunisian Family

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family

Neurology ◽  
2000 ◽  
Vol 54 (7) ◽  
pp. 1408-1414 ◽  
Author(s):  
N. Mrissa ◽  
S. Belal ◽  
C. B. Hamida ◽  
R. Amouri ◽  
I. Turki ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia ◽  
Tunisian Family

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

scholarly journals Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

2009 ◽  
Vol 24 (10) ◽  
pp. 1310-1315 ◽  
Author(s):  
Kym M. Boycott ◽  
Carsten Bonnemann ◽  
Joachim Herz ◽  
Stephanie Neuert ◽  
Chandree Beaulieu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia
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