Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
about
Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channelsDeficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysisLoss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Sodium Channelopathies of Skeletal Muscle.A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.
P2860
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P2860
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Novel mutations in human and m ...... otonia and periodic paralysis.
@ast
Novel mutations in human and m ...... otonia and periodic paralysis.
@en
type
label
Novel mutations in human and m ...... otonia and periodic paralysis.
@ast
Novel mutations in human and m ...... otonia and periodic paralysis.
@en
prefLabel
Novel mutations in human and m ...... otonia and periodic paralysis.
@ast
Novel mutations in human and m ...... otonia and periodic paralysis.
@en
P2093
P2860
P50
P356
P1433
P1476
Novel mutations in human and m ...... otonia and periodic paralysis.
@en
P2093
Andrea Cortese
Andrianos Liavas
Anthony A Amato
Arimantas Lionikas
Colin Quinn
Dipa L Raja Rayan
Estelle G Healy
Gonzalo Blanco
Henning Wackerhage
James Dick
P2860
P304
P356
10.1093/BRAIN/AWU292
P407
P577
2014-10-27T00:00:00Z