Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
about
Recent advances in amyotrophic lateral sclerosisLack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyGenetic spectrum of hereditary neuropathies with onset in the first year of lifeMitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency.Mitochondrial disease: genetics and management.Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domainThe Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Intermediate Charcot-Marie-Tooth disease.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.[Genetics of neuropathies].An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
P2860
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P2860
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@ast
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@en
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@en-gb
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@nl
type
label
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@ast
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@en
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@en-gb
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@nl
prefLabel
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@ast
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@en
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@en-gb
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@nl
P2093
P2860
P3181
P1433
P1476
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
@en
P2093
A B Schindler
A Jordanova
A Kochański
D Kabzińska
D R Cornblath
E De Vriendt
E Jaakkola
G M Fabrizi
P2860
P3181
P356
10.1212/WNL.0B013E318228FC70
P407
P577
2011-08-09T00:00:00Z