Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
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A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigreeCharcot-Marie-Tooth disease and intracellular trafficSURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseLack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyThe mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanImplications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.Whole genome expression profile in neuroblastoma cells exposed to 1-methyl-4-phenylpyridineMitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency.Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.PATHOLOGIES OF AXONAL TRANSPORT IN NEURODEGENERATIVE DISEASESIs SOD1 loss of function involved in amyotrophic lateral sclerosis?The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.Mitochondrial protein quality control in health and disease.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.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.
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P2860
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
description
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 21 September 2010
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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
Mitochondrial dysfunction and ...... ase involving GDAP1 mutations.
@en
Mitochondrial dysfunction and ...... ase involving GDAP1 mutations.
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type
label
Mitochondrial dysfunction and ...... ase involving GDAP1 mutations.
@en
Mitochondrial dysfunction and ...... ase involving GDAP1 mutations.
@nl
prefLabel
Mitochondrial dysfunction and ...... ase involving GDAP1 mutations.
@en
Mitochondrial dysfunction and ...... ase involving GDAP1 mutations.
@nl
P2093
P50
P1476
Mitochondrial dysfunction and ...... ease involving GDAP1 mutations
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P2093
Christophe Verny
Frédéric Dubas
Guillaume Nicolas
Julien Cassereau
Naïg Gueguen
Patrizia Amati-Bonneau
P356
10.1016/J.EXPNEUROL.2010.09.006
P407
P577
2010-09-21T00:00:00Z