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European Journal of Neurology|October 19, 2022
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophySilvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, et al.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.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.Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.European Journal of Neurology|April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMichelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.Neurology|May 3, 2013
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutationMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.Journal of Neurology|December 31, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, 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.Pageof 13