scholarly journals Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

2013 ◽  
Vol 3 (4) ◽  
pp. 115
Author(s):  
Christina Votsi
Keyword(s):  
Cerebellar Ataxia ◽  
Genome Sequencing ◽  
Molecular Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia ◽  
Whole Exome

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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