CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
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Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachThe genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and managementA brief review of recent Charcot-Marie-Tooth research and prioritiesClinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary NeuropathyChaperonopathies: Spotlight on Hereditary Motor NeuropathiesDiagnostic and cost utility of whole exome sequencing in peripheral neuropathy.Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth diseaseA Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory NeuropathiesGenotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2.Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients.Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life.Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders.Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.Gene therapy, CMT1X, and the inherited neuropathies.Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy.Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Natural history of Charcot-Marie-Tooth disease during childhood.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.Charcot Marie Tooth disease type 4J with complex central nervous system features.
P2860
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P2860
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
description
2014 nî lūn-bûn
@nan
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
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2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
CMT subtypes and disease burde ...... y: a cross-sectional analysis.
@ast
CMT subtypes and disease burde ...... y: a cross-sectional analysis.
@en
type
label
CMT subtypes and disease burde ...... y: a cross-sectional analysis.
@ast
CMT subtypes and disease burde ...... y: a cross-sectional analysis.
@en
prefLabel
CMT subtypes and disease burde ...... y: a cross-sectional analysis.
@ast
CMT subtypes and disease burde ...... y: a cross-sectional analysis.
@en
P2093
P2860
P50
P356
P1476
CMT subtypes and disease burde ...... y: a cross-sectional analysis.
@en
P2093
C E Siskind
C J Sumner
D N Herrmann
D Pareyson
E Pagliano
P2860
P304
P356
10.1136/JNNP-2014-308826
P407
P577
2014-11-27T00:00:00Z