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Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.Oxidative stress, mitochondrial damage and neurodegenerative diseasesTargeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patientMovement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report.p62/sequestosome-1 knockout delays neurodegeneration induced by Drp1 loss.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Ataxia in mitochondrial disorders.
@en
Ataxia in mitochondrial disorders.
@nl
type
label
Ataxia in mitochondrial disorders.
@en
Ataxia in mitochondrial disorders.
@nl
prefLabel
Ataxia in mitochondrial disorders.
@en
Ataxia in mitochondrial disorders.
@nl
P1476
Ataxia in mitochondrial disorders.
@en
P2093
Alessandro Simonati
P304
P356
10.1016/B978-0-444-51892-7.00022-X
P577
2012-01-01T00:00:00Z