Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.
about
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaPhenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Phenotypic variability of TRPV4 related neuropathies.Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.Towards a functional pathology of hereditary neuropathies.Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.In-frame de novo mutation in in two patients with muscular atrophy and arthrogryposis
P2860
Q30415898-B5D9DE58-D98E-45B8-AC43-8ED6881EEA9BQ35014883-69E71D8D-6FAD-49C6-B15F-7507B943ED89Q35680803-2E9BB15F-AC62-4C99-AA2F-11F69FF7469DQ36070359-3326FD7B-FE55-4AC8-AB0C-45FA21B02F88Q36249484-BA918425-9B74-41F8-A372-EECA77713816Q39023144-72146AF2-F239-42FC-AF14-7483595E1E9AQ48821607-394AF6F5-4E43-4F44-8CA3-2830C312F840Q58792934-27FC0A2E-FEC0-4911-A59E-114BC103AB1B
P2860
Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.
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
Autosomal dominant congenital ...... y loss of anterior horn cells.
@ast
Autosomal dominant congenital ...... y loss of anterior horn cells.
@en
Autosomal dominant congenital ...... y loss of anterior horn cells.
@nl
type
label
Autosomal dominant congenital ...... y loss of anterior horn cells.
@ast
Autosomal dominant congenital ...... y loss of anterior horn cells.
@en
Autosomal dominant congenital ...... y loss of anterior horn cells.
@nl
prefLabel
Autosomal dominant congenital ...... y loss of anterior horn cells.
@ast
Autosomal dominant congenital ...... y loss of anterior horn cells.
@en
Autosomal dominant congenital ...... y loss of anterior horn cells.
@nl
P2093
P2860
P50
P356
P1433
P1476
Autosomal dominant congenital ...... ly loss of anterior horn cells
@en
P2093
Emily C Oates
Luke C Gandolfo
Melanie Bahlo
Michael L Rodriguez
Nigel F Clarke
Simon H Hawke
P2860
P304
P356
10.1093/BRAIN/AWS108
P407
P577
2012-06-01T00:00:00Z