Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
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MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.A view on clinical genetics and genomics in Spain: of challenges and opportunitiesClinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.Recent advances in the genetic neuropathies.Towards a functional pathology of hereditary neuropathies.Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.MORC2B is essential for meiotic progression and fertility.MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms.De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
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P2860
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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name
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
@en
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
@nl
type
label
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
@en
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
@nl
prefLabel
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
@en
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
@en
P2093
Joaquín Dopazo
Mar García-Romero
María J Chumillas
Nuria Muelas
Paula Sancho
Rafael Sivera
Teresa Sevilla
P2860
P356
10.1093/BRAIN/AWV311
P407
P50
P577
2015-10-24T00:00:00Z