Open AccessLate-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene
Author(s) -
Hideyuki Shimazaki,
Junya Kobayashi,
Ryo Sugaya,
Imaharu Nakano,
Shigeru Fujimoto
Publication year - 2020
Publication title -
journal of integrative neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.336
H-Index - 33
eISSN - 1757-448X
pISSN - 0219-6352
DOI - 10.31083/j.jin.2020.01.1239
Subject(s) - cerebellar ataxia , ataxia , ataxia telangiectasia , dystonia , medicine , missense mutation , exome sequencing , pathology , atrophy , cerebellum , genetics , mutation , biology , neuroscience , gene , dna , dna damage