A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
about
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.Clinical and research strategies for limb-girdle congenital myasthenic syndromes.Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
description
2017 nî lūn-bûn
@nan
2017 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի մարտին հրատարակված գիտական հոդված
@hy
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
name
A Novel Missense Variant in th ...... ome Presenting With Head Drop.
@ast
A Novel Missense Variant in th ...... ome Presenting With Head Drop.
@en
type
label
A Novel Missense Variant in th ...... ome Presenting With Head Drop.
@ast
A Novel Missense Variant in th ...... ome Presenting With Head Drop.
@en
prefLabel
A Novel Missense Variant in th ...... ome Presenting With Head Drop.
@ast
A Novel Missense Variant in th ...... ome Presenting With Head Drop.
@en
P2093
P2860
P1476
A Novel Missense Variant in th ...... ome Presenting With Head Drop.
@en
P2093
Alan H Beggs
Mert Karakaya
Ozge Ceyhan-Birsoy
P2860
P304
P356
10.1097/CND.0000000000000132
P577
2017-03-01T00:00:00Z