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Year
Year
-Year
2011
2012
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2014
2015
2016
2017
2018
2019
Article
GNE
genotype explains 20% of phenotypic variability in GNE myopathy
Oksana
Pogoryelova
,
Ian J.
Wilson
,
Hank
Mansbach
, et al.
February 01, 2019
Article
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy
Bruce
Nmezi
,
Elisa
Giorgio
,
Raili
Raininko
, et al.
January 24, 2019
Clinical/Scientific Notes
PUS3
mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
Anderson Rodrigues Brandão
de Paiva
,
David S.
Lynch
,
Uirá Souto
Melo
, et al.
January 16, 2019
Article
Gene variants of adhesion molecules predispose to MS: A case-control study
Efthimios
Dardiotis
,
Elena
Panayiotou
,
Vasileios
Siokas
, et al.
January 16, 2019
Clinical/Scientific Notes
Variable reporting of
C9orf72
and a high rate of uncertain results in ALS genetic testing
Holly
Klepek
,
Stephen A.
Goutman
,
Adam
Quick
, et al.
January 07, 2019
Article
Screening of novel restless legs syndrome–associated genes in French-Canadian families
Fulya
Akçimen
,
Dan
Spiegelman
,
Alexandre
Dionne-Laporte
, et al.
December 20, 2018
Article
Duplication and deletion upstream of
LMNB1
in autosomal dominant adult-onset leukodystrophy
Naomi
Mezaki
,
Takeshi
Miura
,
Kotaro
Ogaki
, et al.
December 07, 2018
Editorial
The complex structure of
ATXN2
genetic variation
Stefan M.
Pulst
December 06, 2018
Article
Development of a rapid functional assay that predicts GLUT1 disease severity
Sasha M.
Zaman
,
Saul A.
Mullen
,
Slavé
Petrovski
, et al.
December 06, 2018
Article
Brain somatic mutations in
SLC35A2
cause intractable epilepsy with aberrant N-glycosylation
Nam Suk
Sim
,
Youngsuk
Seo
,
Jae Seok
Lim
, et al.
December 05, 2018
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