A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance
about
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitisSevere axonal neuropathy is a late manifestation of SPG11.Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.Sciatic nerve regeneration in KLF7-transfected acellular nerve allografts.Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease.Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
P2860
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P2860
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance
description
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2013
@ast
im November 2013 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2013/11/07)
@sk
vědecký článek publikovaný v roce 2013
@cs
wetenschappelijk artikel (gepubliceerd op 2013/11/07)
@nl
наукова стаття, опублікована в листопаді 2013
@uk
مقالة علمية (نشرت في 7-11-2013)
@ar
name
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@ast
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@en
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@nl
type
label
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@ast
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@en
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@nl
prefLabel
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@ast
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@en
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@nl
P2093
P2860
P50
P3181
P1476
A dominant mutation in FBXO38 ...... atrophy with calf predominance
@en
P2093
Alexander M. Rossor
Alice R. Gardiner
Ami Mankodi
Bernadett Kalmar
Charlotte J. Sumner
Constantin d'Ydewalle
David R. Cornblath
Dena Hernandez
Horia C. Stanescu
Joe Wooley
P2860
P304
P3181
P356
10.1016/J.AJHG.2013.10.006
P407
P577
2013-11-07T00:00:00Z