Open AccessDe novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation
Author(s) -
Ginevra Zanni,
Marta Nardella,
Sabina Barresi,
Emanuele Bellacchio,
Marcello Niceta,
Andrea Ciolfi,
S. Pro,
Stefano D’Arrigo,
Marco Tartaglia,
Enrico Bertini
Publication year - 2017
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awx083
Subject(s) - ataxia , polyneuropathy , cerebellar ataxia , medicine , mutation , neuroscience , pathology , biology , genetics , gene
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