Open AccessReply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
Author(s) -
Ilse Eidhof,
Jonathan Baets,
ErikJan Kamsteeg,
Annette Schenck,
Bart P.C. van de Warrenburg
Publication year - 2020
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/awaa122
Subject(s) - spinocerebellar ataxia , ataxia , cerebellar ataxia , genetics , chinese family , loss function , medicine , biology , neuroscience , phenotype , gene
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