Four novel cases of periaxin-related neuropathy and review of the literature.
about
Charcot-Marie-Tooth disease and intracellular trafficAbsence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cellsThe use of whole-exome sequencing to disentangle complex phenotypesInherited peripheral neuropathies.Cholecalciferol (vitamin D₃) improves myelination and recovery after nerve injury.Advances in the laboratory evaluation of peripheral neuropathies.Demyelinating prenatal and infantile developmental neuropathies.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.Towards a functional pathology of hereditary neuropathies.A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands.
P2860
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P2860
Four novel cases of periaxin-related neuropathy and review of the literature.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Four novel cases of periaxin-related neuropathy and review of the literature.
@en
Four novel cases of periaxin-related neuropathy and review of the literature.
@nl
type
label
Four novel cases of periaxin-related neuropathy and review of the literature.
@en
Four novel cases of periaxin-related neuropathy and review of the literature.
@nl
prefLabel
Four novel cases of periaxin-related neuropathy and review of the literature.
@en
Four novel cases of periaxin-related neuropathy and review of the literature.
@nl
P2093
P50
P1433
P1476
Four novel cases of periaxin-related neuropathy and review of the literature
@en
P2093
C Marchesi
D Pareyson
G M Fabrizi
T Cavallaro
P304
P356
10.1212/WNL.0B013E3181FD6314
P407
P577
2010-11-01T00:00:00Z