|
Title
|
|
|
|
Reply: 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
|
|
|
|
| |
|
Language
|
|
|
|
English
| |
|
Source (journal)
|
|
|
|
Brain. - London
| |
|
Publication
|
|
|
|
Oxford
:
Oxford univ press
,
2020
| |
|
ISSN
|
|
|
|
0006-8950
| |
|
DOI
|
|
|
|
10.1093/BRAIN/AWAA122
| |
|
Volume/pages
|
|
|
|
143
:6
(2020)
, 2 p.
| |
|
Article Reference
|
|
|
|
e51
| |
|
ISI
|
|
|
|
000541788700007
| |
|
Pubmed ID
|
|
|
|
32428197
| |
|
Medium
|
|
|
|
E-only publicatie
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|
Full text (open access)
|
|
|
|
| |
|