MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

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http://www.wikidata.org/entity/Q37073802
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesGenetic heterogeneity of motor neuropathiesClinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.Recent advances in the genetic neuropathies.Selective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators.High intra-familiar clinical variability in MORC2 mutated CMT2 patients.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.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.
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MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Item
http://www.wikidata.org/entity/Q37073802
description
article científic
@ca
article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 10 December 2015
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
@en
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
@nl
type
label
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
@en
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
@nl
prefLabel
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
@en
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932