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Neurology|March 20, 2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8Sara Carli, Anna Levarlet, Daria Diodato, et al.
Neuromuscular Disorders : NMD|March 30, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian NetworkMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type CSimona Fecarotta, Alfonso Romano, Roberto Della Casa, et al.
European Journal of Neurology|April 5, 2024
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working GroupMichelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, et al.
Neuromuscular Disorders : NMD|March 7, 2017
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvementsAdele D'Amico, Michela Catteruccia, Giovanni Baranello, et al.
Journal of Neurology|January 8, 2025
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.
Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
Brain : a Journal of Neurology|February 26, 2016
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearanceCristina Dallabona, Truus E M Abbink, Rosalba Carrozzo, et al.
American Journal of Medical Genetics. Part A|August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individualsDeepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
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