scholarly journals Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14

2021 ◽  
Vol 18 (2) ◽  
pp. 127-131
Author(s):  
Ae Ryoung Kim ◽  
Jong-Mok Lee ◽  
Go Hun Seo ◽  
Sang In Lee ◽  
Hyunwoo Bae ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Recessive

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature

2020 ◽  
Author(s):  
Ahmet Cevdet Ceylan ◽  
Elif Acar Arslan ◽  
Haktan Bağış Erdem ◽  
Haluk Kavus ◽  
Mutluay Arslan ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Recessive ◽  
Review Of The Literature

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

2020 ◽  
Vol 65 (12) ◽  
pp. 1135-1141
Author(s):  
Edoardo Errichiello ◽  
Guido Zagnoli-Vieira ◽  
Romana Rizzi ◽  
Livia Garavelli ◽  
Keith W. Caldecott ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Recessive ◽  
Adult Patients ◽  
Loss Of Function

Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

2013 ◽  
Vol 331 (1-2) ◽  
pp. 158-160 ◽  
Author(s):  
Yaeko Ichikawa ◽  
Hiroyuki Ishiura ◽  
Jun Mitsui ◽  
Yuji Takahashi ◽  
Shunsuke Kobayashi ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Recessive ◽  
Japanese Family ◽  
Exome Analysis

scholarly journals Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Authorea ◽  
2020 ◽  
Author(s):  
Edoardo Errichiello ◽  
Guido Zagnoli Vieira ◽  
Romana Rizzi ◽  
Livia Garavelli ◽  
Keith Caldecott ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Recessive ◽  
Adult Patients ◽  
Loss Of Function
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