Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient

2021 ◽  
Author(s):  
J Valentina Castillo ◽  
S Catherine Díaz ◽  
María Leonor Bustamante ◽  
Matheus Gomes Ferreira ◽  
Hélio A. G. Teive ◽  
...  
Keyword(s):  
Case Report ◽  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia ◽  
First Case

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

Preserved myocardial [123 I]metaiodobenzylguanidine uptake in autosomal recessive juvenile parkinsonism: First case report

2005 ◽  
Vol 20 (5) ◽  
pp. 634-636 ◽  
Author(s):  
Masahiko Suzuki ◽  
Nobutaka Hattori ◽  
Satoshi Orimo ◽  
Nobuyoshi Fukumitsu ◽  
Masahiro Abo ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism ◽  
First Case

First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
CuiLi Liang ◽  
MinYan Jiang ◽  
HuiYing Sheng ◽  
YanNa Cai ◽  
DongYan Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
First Case ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A

AbstractMedium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the

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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