Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation
about
SPTAN1 encephalopathy: distinct phenotypes and genotypes.Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesDevelopmental mechanism of the periodic membrane skeleton in axons.Membrane domain organization of myelinated axons requires βII spectrinSubcellular patterning: axonal domains with specialized structure and function.Dystrophin and Spectrin, Two Highly Dissimilar Sisters of the Same Family.Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.αII Spectrin Forms a Periodic Cytoskeleton at the Axon Initial Segment and Is Required for Nervous System Function.Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.Screening of Human Proteins for Fluoride and Aluminum Binding.
P2860
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P2860
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@ast
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@en
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@nl
type
label
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@ast
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@en
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@nl
prefLabel
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@ast
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@en
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@nl
P2093
P2860
P1433
P1476
Early onset West syndrome with ...... in a girl with SPTAN1 mutation
@en
P2093
Barbara Gnidovec Stražišar
Branka Stirn Kranjc
Karin Writzl
Kiyomi Nishiyama
Naomichi Matsumoto
Nuška Pečarič-Meglič
Zvonka Rener Primec
P2860
P304
P356
10.1111/J.1528-1167.2012.03437.X
P407
P577
2012-06-01T00:00:00Z