Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

Item
http://www.wikidata.org/entity/Q28238569
Modes of metabolic compensation during mitochondrial disease using the Drosophila model of ATP6 dysfunctionAdaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutationDefining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast modelComplex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome.Mitochondrial ATP synthase: architecture, function and pathology.Modeling mitochondrial encephalomyopathy in Drosophila.Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.Primer effect in the detection of mitochondrial DNA point heteroplasmy by automated sequencing.ATP Synthase Diseases of Mitochondrial Genetic Origin.
P2860

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

Item
http://www.wikidata.org/entity/Q28238569
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@ast
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@en
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@nl
type
label
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@ast
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@en
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@nl
prefLabel
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@ast
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@en
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698