MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
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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.
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article científic
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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
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vedecký článok
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vetenskaplig artikel
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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.
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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
P2093
P2860
P356
P1433
P1476
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
@en
P2093
Alan Pestronk
Alexander P Drew
Anna H Siddell
Anne Connolly
Garth A Nicholson
Marina L Kennerson
Matthew B Harms
Obaid M Albulym
Robert H Baloh
Stephen W Reddel
P2860
P304
P356
10.1002/ANA.24575
P577
2015-12-10T00:00:00Z