The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
about
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachA brief review of recent Charcot-Marie-Tooth research and prioritiesStructural variation mutagenesis of the human genome: Impact on disease and evolution.Chaperonopathies: Spotlight on Hereditary Motor NeuropathiesCollaboration for rare disease drug discovery researchAxonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsThe role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.Protein Mis-Termination Initiates Genetic Diseases, Cancers, and Restricts Bacterial Genome Expansion.Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variabilityExome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyIntegrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2.Molecular diagnostic experience of whole-exome sequencing in adult patientsPilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.Genetic heterogeneity of motor neuropathiesGenetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Promoting peripheral myelin repair.FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.Genome-wide meta-analyses identifies novel taxane-induced peripheral neuropathy-associated loci.Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.Cell transplantation strategies for acquired and inherited disorders of peripheral myelin.Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
P2860
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P2860
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
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
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
The allelic spectrum of Charco ...... 0 individuals with neuropathy.
@en
The allelic spectrum of Charco ...... 0 individuals with neuropathy.
@nl
type
label
The allelic spectrum of Charco ...... 0 individuals with neuropathy.
@en
The allelic spectrum of Charco ...... 0 individuals with neuropathy.
@nl
prefLabel
The allelic spectrum of Charco ...... 0 individuals with neuropathy.
@en
The allelic spectrum of Charco ...... 0 individuals with neuropathy.
@nl
P2093
P2860
P356
P1476
The allelic spectrum of Charco ...... 0 individuals with neuropathy.
@en
P2093
Adam C Medeiros
Carol A Hoffman
Christina DiVincenzo
Christopher D Elzinga
Corey D Braastad
Crystal M Bishop
Izabela Karbassi
James R Lupski
Jeremiah R Jones
Joseph J Higgins
P2860
P304
P356
10.1002/MGG3.106
P577
2014-08-21T00:00:00Z