Disease: Neuropathy ataxia and retinis pigmentosa
- "Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
- "Myo-neuropathy" is commonly associated with mitochondrial tRNA<sup>Lysine</sup> mutation
- A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome
- A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A
- A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
- A magic bullet to specifically eliminate mutated mitochondrial genomes from patients' cells
- A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome
- A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism
- A novel variant m.8561C>T in the overlapping region of <em>MT-ATP6</em> and <em>MT-ATP8</em> in a child with early-onset severe neurological signs
- A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement?
- A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene
- A yeast-based assay identifies drugs active against human mitochondrial disorders
- An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3
- Analysis of common mitochondrial DNA mutations by allele-specific oligonucleotide and Southern blot hybridization
- Antioxidant defence systems and generation of reactive oxygen species in osteosarcoma cells with defective mitochondria: effect of selenium
- Association of optic nerve hypoplasia with mitochondrial cytopathies
- Ataxia with loss of Purkinje cells in a mouse model for Refsum disease
- Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene
- Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
- Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation
- Chemobiology at happy hour: yeast as a model for pharmacological screening
- Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia)
- Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia
- Cognitive dysfunction in mitochondrial disorders
- Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
- Current Diagnosis and Management of Abetalipoproteinemia
- Delineating <em>MT-ATP6</em>-associated disease: From isolated neuropathy to early onset neurodegeneration
- Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome
- Diagnosis and therapy of mitochondrial diseases
- Differential metabolic consequences of fumarate hydratase and respiratory chain defects
- Digestive system disease as manifestation of the pleiotropic action of genes in mitochondrial dysfunction
- Diseases caused by mutations in mitochondrial DNA
- Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients
- Effect of selenite on basic mitochondrial function in human osteosarcoma cells with chronic mitochondrial stress
- Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy
- Expanding the clinical phenotypes of MT-ATP6 mutations
- Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
- Expression and purification of the heme exporter FLVCR1a
- FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy
- Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176 T>G mutation
- Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
- Heterogeneous patterns of tissue injury in NARP syndrome
- Heteroplasmy and phenotype spectrum of the mitochondrial tRNA<sup>Leu (UUR)</sup> gene m.3243A>G mutation in seven Han Chinese families
- Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities
- 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
- Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant
- Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA
- Long-term Aβ exposure augments mCa2+-independent mROS-mediated depletion of cardiolipin for the shift of a lethal transient mitochondrial permeability transition to its permanent mode in NARP cybrids: a protective targeting of melatonin
- Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
- Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations
- m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening
- Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease
- Mitochondrial biogenesis: pharmacological approaches
- Mitochondrial disorders: Understanding mitochondrial DNA point mutations and deletion syndromes
- Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells
- Mitochondrial dysfunction affecting visual pathways
- Mitochondrial dysfunction underlying outer retinal diseases
- Mitochondrial encephalomyopathy in Drosophila
- Mitochondrial Retinopathies
- Mitochondrial Retinopathy
- Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations
- Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C
- NARP mutation and mtDNA depletion trigger mitochondrial biogenesis which can be modulated by selenite supplementation
- NARP Syndrome: A 20-Year Follow-Up
- Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs
- Neuroacanthocytosis update
- Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes
- Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome
- NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA SYNDROME: A MULTIDISCIPLINARY DIAGNOSIS
- Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial <em>G8363A</em> Mutation in a Family
- Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings
- Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
- Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness
- Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)
- Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa
- Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
- 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
- Perspectives of drug-based neuroprotection targeting mitochondria
- PGD to reduce reproductive risk: the case of mitochondrial DNA disorders
- Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
- Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis
- Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation
- Posterior leukoencephalopathy in NARP syndrome
- Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation
- Proteome profile of peripheral myelin in healthy mice and in a neuropathy model
- Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report
- Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus
- Selective elimination of mitochondrial mutations in the germline by genome editing
- Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosarcoma cells with mitochondrial dysfunction
- Sleep and circadian defects in a <em>Drosophila</em> model of mitochondrial encephalomyopathy
- The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
- The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
- The role of mitochondria in inherited neurodegenerative diseases
- The study of the pathogenic mechanism of mitochondrial diseases provides information on basic bioenergetics
- Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene
- Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies
- Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene