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Molecular Genetics and Metabolism|October 11, 2025
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literatureAlessia Catania, Silvia Marchet, Krisztina Einvag, et al.
Case Reports in Ophthalmological Medicine|November 20, 2024
Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night BlindnessGabriella Cammarata, Alessandra Mihalich, Emanuela Manfredini, et al.
Molecular Genetics and Metabolism Reports|September 23, 2016
Mitochondrial m.3243A > G mutation and carotid artery dissectionMichelangelo Mancuso, Vincenzo Montano, Daniele Orsucci, et al.
Archives of Neurology|October 22, 2003
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genesMichelangelo Mancuso, Massimiliano Filosto, Seiichi Tsujino, et al.
American Journal of Medical Genetics. Part A|February 19, 2019
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairmentAlessia Catania, Andrea Legati, Lorenzo Peverelli, et al.
Frontiers in Genetics|July 17, 2023
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletionsChiara Frascarelli, Nadia Zanetti, Alessia Nasca, et al.
Neuromuscular Disorders : NMD|July 27, 2012
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit ICostanza Lamperti, Daria Diodato, Eleonora Lamantea, et al.
Nature Medicine|July 27, 2010
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathyCarlo Viscomi, Alberto B Burlina, Imad Dweikat, et al.
Muscle & Nerve|September 5, 2002
Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 geneGigliola Fagiolari, Monica Sciacco, Luca Chiveri, et al.
Journal of Neurology|October 26, 2013
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literatureGauthier Remiche, Dario Ronchi, Francesca Magri, et al.
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