Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
about
Charcot-Marie-Tooth disease and intracellular trafficPeriaxin and AHNAK Nucleoprotein 2 Form Intertwined Homodimers through Domain SwappingSequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.Myelin-specific proteins: a structurally diverse group of membrane-interacting molecules.Genetic spectrum of hereditary neuropathies with onset in the first year of lifeA laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segmentsThe function of the Periaxin gene during nerve repair in a model of CMT4F.Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.Autosomal-recessive Charcot-Marie-Tooth diseases.Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cellsClinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Neuropathology of Charcot-Marie-Tooth and related disorders.Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Acute Simian Varicella Virus Infection Causes Robust and Sustained Changes in Gene Expression in the Sensory Ganglia.Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases.Demyelinating prenatal and infantile developmental neuropathies.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Genetic disruption of Pten in a novel mouse model of tomaculous neuropathy.Increasing internodal distance in myelinated nerves accelerates nerve conduction to a flat maximum.Preliminary crystallographic analysis of the N-terminal PDZ-like domain of periaxin, an abundant peripheral nerve protein linked to human neuropathies.Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growthPathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice.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.Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease
P2860
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P2860
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
description
2002 nî lūn-bûn
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2002 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@ast
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@en
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@nl
type
label
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@ast
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@en
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@nl
prefLabel
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@ast
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@en
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
@nl
P2093
P2860
P356
P1433
P1476
Periaxin mutations cause a broad spectrum of demyelinating neuropathies
@en
P2093
Chantal Ceuterick
Cornelius F Boerkoel
Hiroshi Takashima
J-Michael Schröder
James R Lupski
Jean-Jacques Martin
Peter De Jonghe
Peter J Brophy
Thomas Voit
Vincent Timmerman
P2860
P304
P356
10.1002/ANA.10213
P577
2002-06-01T00:00:00Z