Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

Item
http://www.wikidata.org/entity/Q28210281
Q28177725
sameAs
Dominant GDAP1 mutations cause predominantly mild CMT phenotypesA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyCell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A diseaseUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Subtyping schizophrenia: implications for genetic research.Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.Demyelinating prenatal and infantile developmental neuropathies.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.
P2860

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

Item
http://www.wikidata.org/entity/Q28210281
description
2003 nî lūn-bûn
@nan
2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
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name
Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
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Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
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Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
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type
label
Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
@ast
Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
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Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
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prefLabel
Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
@ast
Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
@en
Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
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Identification of novel GDAP1 ...... ve Charcot-Marie-Tooth disease
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P2093
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P356
10.1016/S0960-8966(03)00093-2
P407
P433
P478
P50
P577
P698