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Neuromuscular Disorders : NMD|May 28, 2008
Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathyGiuliana Galassi, Eleonora Lamantea, Federica Invernizzi, et al.
Frontiers in Genetics|December 6, 2014
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutationsFederica Invernizzi, Anna Ardissone, Eleonora Lamantea, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 15, 2022
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathyMarco Moscatelli, Anna Ardissone, Eleonora Lamantea, 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.
Biotech (Basel (Switzerland))|February 21, 2025
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNAMarco Barresi, Giulia Dal Santo, Rossella Izzo, et al.
Journal of the Neurological Sciences|October 15, 2010
Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutationEttore Salsano, Anna Rita Giovagnoli, Lucia Morandi, et al.
European Journal of Human Genetics : EJHG|November 23, 2024
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case reportGiulia Ferrera, Kevork Derderian, Rossella Izzo, et al.
Biomolecules|September 27, 2025
A De Novo <i>DNM1L</i> Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic NeuropathyAlessia Nasca, Alessia Catania, Andrea Legati, et al.
JIMD Reports|March 17, 2015
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of LiteratureAnna Ardissone, Tiziana Granata, Andrea Legati, et al.
Orphanet Journal of Rare Diseases|May 16, 2024
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studiesDaniele Sala, Silvia Marchet, Lorenzo Nanetti, et al.
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