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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseA complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinWhat is this thing called pain?Early life programming of pain: focus on neuroimmune to endocrine communicationGenetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathiesSNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCharacteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective.Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in miceGenetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.Inherited peripheral neuropathies.Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese PatientsProspective study of muscle cramps in Charcot-Marie-tooth disease.Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.Charcot-Marie-Tooth syndrome and neurofibromatosis type 1 with multiple neurofibromas of the entire spinal nerve roots.Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohortPatient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.Pes cavus and hereditary neuropathies: when a relationship should be suspected.Paediatric electromyography in the modern world: a personal view.Advances in the laboratory evaluation of peripheral neuropathies.Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencingCorrecting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps.Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.Genetic testing practices for Charcot-Marie-Tooth type 1A disease.A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.Functional recovery of regenerating motor axons is delayed in mice heterozygously deficient for the myelin protein P(0) gene.Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.
P2860
Q21144974-8E683A1B-9104-43AB-88FF-B2E8792D72E0Q24299375-3226046B-7D89-49D3-A2AB-F694CE0D3667Q24595903-632A4984-0069-426D-9611-259E4BA5686AQ24623206-A5095FBD-18C4-4A54-820C-2EFBC155BD0CQ26751421-4310D41F-4E8E-49A6-972A-09E67129F908Q28477563-F46EF549-01C3-418F-961C-6CC5828EDA89Q34011184-4B5306D9-93C8-46E4-A809-D63DE9A49E3CQ34029271-CFCC928E-8863-4357-BE98-255F80D03F78Q34478330-91DB4F45-5B8A-4FF2-B941-49E5F750B156Q34621607-A5AB94DA-A3E2-49BB-9474-80BD1CF79D6DQ36007846-EC253D48-47DB-4EF0-A585-293048FBE1DDQ36475272-F7639EB0-E70C-4CB7-991C-D75BC138A536Q36717951-8672CB7F-F955-43F0-8BAE-1A171F67D4A5Q36822088-6AD9A59D-D9B4-4C8B-8E49-EB33499D03FDQ36856529-66A20D4A-CEF9-46D7-8032-F8A521A07191Q36880895-866240BD-78E7-4BBC-A967-259C15652C06Q37021766-50D31D81-A18F-4C3F-ABE2-0045B63EC2A0Q37077519-9222EF73-6339-46AD-84D1-B00D0D0D410CQ37078644-EFE0098B-988F-4598-B866-ABD679E4FF13Q37118237-49788F9B-EA08-4C88-B2C4-DB0E12898F28Q37119243-32EFFC8E-7395-4F41-8C22-B0A83F2B5196Q37697478-420678BF-541E-4936-8F90-86B1F370C724Q37801862-B3FAAFC4-02A4-45F3-9402-D3B813C403DBQ37810613-5629D142-1287-4149-B932-C12E0723883CQ37965408-C549DAB3-FF10-4E81-B72B-03F8A64C0EDDQ38069503-87DE1C00-835E-483C-83A5-2AB36453B289Q38687390-A121FF8C-8ED3-4C7C-A92C-09DAFCDCEDB7Q39174764-1F99B34B-1EB6-4C09-A33C-41BB698B061CQ42181203-5C5DB539-4A0B-465E-8338-7792346956CCQ44641147-86A4EF26-DDDA-42EA-8EC9-37078411BC56Q44805368-2A231915-0354-4564-BB97-4BDCEBD1091CQ45107853-FCCCF54F-64F2-4E96-BF35-4917EF4DA119Q46027849-6DE075F3-6F39-4144-B195-83256F0E7247Q48675525-D2532735-D02C-4B7B-8A1C-4A024EB94FEAQ48728723-EF966DEE-31CB-4B05-B580-69CD49735E16Q53370571-47F8FB4B-4EC6-4FE9-BF6E-0504BCE469C4
P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Diagnosis and new treatments in genetic neuropathies.
@ast
Diagnosis and new treatments in genetic neuropathies.
@en
type
label
Diagnosis and new treatments in genetic neuropathies.
@ast
Diagnosis and new treatments in genetic neuropathies.
@en
prefLabel
Diagnosis and new treatments in genetic neuropathies.
@ast
Diagnosis and new treatments in genetic neuropathies.
@en
P356
P1476
Diagnosis and new treatments in genetic neuropathies
@en
P2093
M M Reilly
P304
P356
10.1136/JNNP.2008.158295
P407
P50
P577
2009-12-01T00:00:00Z