Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Item
http://www.wikidata.org/entity/Q48912556
Dominant GDAP1 mutations cause predominantly mild CMT phenotypesLack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyCMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 geneSleep pattern in Charcot-Marie-Tooth disease type 2: report of family case series.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.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Demyelinating prenatal and infantile developmental neuropathies.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature.Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literatureIntermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.Ethambutol toxicity exacerbating the phenotype of CMT2A2.
P2860

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Item
http://www.wikidata.org/entity/Q48912556
description
2008 nî lūn-bûn
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2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Vocal cord paresis and diaphra ...... f GDAP1-associated neuropathy.
@en
Vocal cord paresis and diaphra ...... f GDAP1-associated neuropathy.
@nl
type
label
Vocal cord paresis and diaphra ...... f GDAP1-associated neuropathy.
@en
Vocal cord paresis and diaphra ...... f GDAP1-associated neuropathy.
@nl
prefLabel
Vocal cord paresis and diaphra ...... f GDAP1-associated neuropathy.
@en
Vocal cord paresis and diaphra ...... f GDAP1-associated neuropathy.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Vocal cord paresis and diaphra ...... f GDAP1-associated neuropathy.
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921