Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Item
http://www.wikidata.org/entity/Q57588241
DJ-1 null dopaminergic neuronal cells exhibit defects in mitochondrial function and structure: involvement of mitochondrial complex I assemblyNatural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Childhood leukodystrophies: a clinical perspective.Advances in the diagnosis of leukoencephalopathies.Mitochondrial dysfunction in central nervous system white matter disorders.Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.Novel insights into the role of Neurospora crassa NDUFAF2, an evolutionarily conserved mitochondrial complex I assembly factor.Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.Genetic variant in NDUFS1 gene is associated with schizophrenia and negative symptoms in Han Chinese.Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
P2860

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Item
http://www.wikidata.org/entity/Q57588241
description
im Januar 2011 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2011
@uk
name
Progressive cavitating leukoen ...... and a novel mutation in NDUFS1
@en
Progressive cavitating leukoen ...... and a novel mutation in NDUFS1
@nl
type
label
Progressive cavitating leukoen ...... and a novel mutation in NDUFS1
@en
Progressive cavitating leukoen ...... and a novel mutation in NDUFS1
@nl
prefLabel
Progressive cavitating leukoen ...... and a novel mutation in NDUFS1
@en
Progressive cavitating leukoen ...... and a novel mutation in NDUFS1
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Progressive cavitating leukoen ...... and a novel mutation in NDUFS1
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921