Disease: Maternally Inherited Leigh Syndrome
- 3697G>A in MT-ND1 is a causative mutation in mitochondrial disease
- A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
- A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy
- A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome
- A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss
- A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene
- Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration
- Association of optic nerve hypoplasia with mitochondrial cytopathies
- Ataxias with autosomal, X-chromosomal or maternal inheritance
- ATP6 homoplasmic mutations inhibit and destabilize the human F1F0-ATP synthase without preventing enzyme assembly and oligomerization
- Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients
- Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
- Clinical and laboratory findings in referrals for mitochondrial DNA analysis
- Clinical and molecular studies in three Portuguese mtDNA T8993G families
- Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
- Cognitive dysfunction in mitochondrial disorders
- Coupling the mitochondrial transcription machinery to human disease
- Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome
- Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001
- Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene
- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
- Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy
- Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene
- Expanding the clinical phenotypes of MT-ATP6 mutations
- Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
- Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene
- Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176 T>G mutation
- G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome
- Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6
- Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations
- Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations
- Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation
- Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome
- Genotype-phenotype correlation of maternally inherited disorders due to mutations in mitochondrial DNA
- High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes
- Human mitochondrial diseases: answering questions and questioning answers
- Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy
- Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome
- Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots
- Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta
- Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report
- Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report
- Late-onset Leigh syndrome without delayed development in China: A case report
- Leber's hereditary optic neuropathy is multiorgan not mono-organ
- Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3
- Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family
- Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
- Leigh Syndrome: an MR Study of Three Cases
- Live birth derived from oocyte spindle transfer to prevent mitochondrial disease
- Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
- Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome
- m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening
- Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation
- Maternally inherited Leigh syndrome
- Maternally inherited Leigh syndrome
- Maternally inherited Leigh syndrome: an unusual cause of infantile apnea
- Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family
- Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis
- mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets
- Mito-Nuclear Interactions Affecting Lifespan and Neurodegeneration in a <em>Drosophila</em> Model of Leigh Syndrome
- Mitochondrial cytopathies
- Mitochondrial disorders
- Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options
- Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells
- Mitochondrial DNA mutations provoke dominant inhibition of mitochondrial inner membrane fusion
- Mitochondrial encephalomyopathies
- Mitochondrial encephalomyopathy in Drosophila
- Mitochondrial Retinopathies
- MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
- mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases
- Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
- NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study
- Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome
- Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
- Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome
- Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
- Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies
- Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells
- Pathogenesis of primary defects in mitochondrial ATP synthesis
- Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study
- Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant
- Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant
- Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
- Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases
- Recent developments in the molecular genetics of mitochondrial disorders
- Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus
- Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders
- Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome
- Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study
- Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications
- Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system
- Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase
- Sleep and circadian defects in a <em>Drosophila</em> model of mitochondrial encephalomyopathy
- The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases
- The heart in m.3243A>G carriers
- The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past
- The molecular background of Leigh syndrome
- The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
- Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity
- Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene