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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B micePerk Ablation Ameliorates Myelination in S63del-Charcot-Marie-Tooth 1B Neuropathy.Ablation of Perk in Schwann Cells Improves Myelination in the S63del Charcot-Marie-Tooth 1B Mouse.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.Impairment of protein degradation and proteasome function in hereditary neuropathies.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 2012
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Phenotypic presentation of the Ser63Del MPZ mutation
@en
Phenotypic presentation of the Ser63Del MPZ mutation.
@nl
type
label
Phenotypic presentation of the Ser63Del MPZ mutation
@en
Phenotypic presentation of the Ser63Del MPZ mutation.
@nl
prefLabel
Phenotypic presentation of the Ser63Del MPZ mutation
@en
Phenotypic presentation of the Ser63Del MPZ mutation.
@nl
P2093
P2860
P1476
Phenotypic presentation of the Ser63Del MPZ mutation
@en
P2093
Agnes Patzko
Lindsey J Miller
Richard A Lewis
P2860
P304
P356
10.1111/J.1529-8027.2012.00398.X
P50
P577
2012-06-01T00:00:00Z