• "Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
• "Myo-neuropathy" is commonly associated with mitochondrial tRNA^Lysine 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&gt;G mutation
• Heteroplasmy and phenotype spectrum of the mitochondrial tRNA^{Leu (UUR)} gene m.3243A&gt;G mutation in seven Han Chinese families
• Homoplasmy of the m. 8993 T&gt;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&gt;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