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Acta Neuropathologica Communications
(Aug 2020)
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
Rie Saito,
Norikazu Hara,
Mari Tada,
Yoshiaki Honma,
Akinori Miyashita,
Osamu Onodera,
Takeshi Ikeuchi,
Akiyoshi Kakita
Affiliations
Rie Saito
Department of Pathology, Brain Research Institute, Niigata University
Norikazu Hara
Department of Molecular Genetics, Brain Research Institute, Niigata University
Mari Tada
Department of Pathology, Brain Research Institute, Niigata University
Yoshiaki Honma
Department of Neurology, Sado General Hospital
Akinori Miyashita
Department of Molecular Genetics, Brain Research Institute, Niigata University
Osamu Onodera
Department of Neurology, Brain Research Institute, Niigata University
Takeshi Ikeuchi
Department of Molecular Genetics, Brain Research Institute, Niigata University
Akiyoshi Kakita
Department of Pathology, Brain Research Institute, Niigata University
DOI
https://doi.org/10.1186/s40478-020-01008-2
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 6
Abstract
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No abstracts available.
Keywords
CHP1
NHE1
Autosomal recessive cerebellar ataxia
Middle-aged onset
Neuropathology
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