Disease: NARP Syndrome
- "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 novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
- 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
- Effectiveness and safety of CGRP monoclonal antibodies in migraine related to mitochondrial diseases in patients with NARP and PEO syndromes
- Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy
- Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176 T>G mutation
- 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
- Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations
- Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity
- Mitochondrial disorders: Understanding mitochondrial DNA point mutations and deletion syndromes
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
- Mitochondrial Medicine in the COVID-19 Era
- Mitochondrial Retinopathies
- Mitochondrial Retinopathy
- Mitochondrial Syndromes Revisited
- MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype
- Neuronal pentraxin-2 (NPTX2) serum levels during an acute psychotic episode in patients with schizophrenia
- Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome
- NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA SYNDROME: A MULTIDISCIPLINARY DIAGNOSIS
- Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings
- Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
- Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
- Primary Mitochondrial Disorders Overview
- Proteome profile of peripheral myelin in healthy mice and in a neuropathy model
- Single-cell individual full-length mtDNA sequencing by iMiGseq uncovers unexpected heteroplasmy shifts in mtDNA editing
- Sleep and circadian defects in a <em>Drosophila</em> model of mitochondrial encephalomyopathy
- Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism
- Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies