Associated Papers
Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report.
Mäntylä S et al.
Acta Neuropathologica Communications, 2026
Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.
Blazekovic A et al.
Genes, 2022
NDUFA1 p.Gly32Arg variant in early-onset dementia.
Huttula S et al.
Neurobiology of Aging, 2022
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.
Bassal MA et al.
Nature Communications, 2022
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
Parayil Sankaran B et al.
Journal of Child Neurology, 2020
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Bugiardini E et al.
Journal of Clinical Medicine, 2019
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
Burkhalter MD et al.
The Journal of Clinical Investigation, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Reply to the Letter, "Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation".
Osaka H et al.
Brain & Development, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children?
Bindu PS et al.
Multiple Sclerosis and Related Disorders, 2018
Correspondence to: "Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency" and "A novel NDUFA1 mutation leads to progressive mitochondrial complex I- specific neurodegenerative disease".
Xu JJ et al.
Molecular Genetics and Metabolism Reports, 2017
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
Kim C et al.
Neurochemistry International, 2017
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Marelli C et al.
Human Mutation, 2016
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
Stroud DA et al.
Nature, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.
Scheffler IE
Journal of Inherited Metabolic Disease, 2015
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Uehara N et al.
Annals of Clinical and Translational Neurology, 2014
Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.
Wallace DC et al.
Cold Spring Harbor Perspectives in Biology, 2013
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB et al.
Journal of Medical Genetics, 2012
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
Mayr JA et al.
Molecular Genetics and Metabolism, 2011
Mitochondrial DNA mutations in disease and aging.
Wallace DC
Environmental and Molecular Mutagenesis, 2010
The pathophysiology of mitochondrial disease as modeled in the mouse.
Wallace DC et al.
Genes & Development, 2009
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Potluri P et al.
Molecular Genetics and Metabolism, 2009
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0