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Nature Genetics|January 15, 2013
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseCornelia Kornblum, Thomas J Nicholls, Tobias B Haack, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|September 27, 2018
Mitochondrial dysfunction in fibroblasts of Multiple System AtrophyGiacomo Monzio Compagnoni, Giulio Kleiner, Andreina Bordoni, et al.Neuromuscular Disorders : NMD|March 28, 2021
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophyClaudia Brogna, Giorgia Coratti, Rachele Rossi, 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.Plos One|July 29, 2022
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular DystrophyGiorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, et al.Neurology|September 8, 2010
Congenital muscular dystrophies with cognitive impairment. A population studyS Messina, C Bruno, I Moroni, et al.Neurobiology of Aging|October 16, 2012
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementiaCinzia Tiloca, Nicola Ticozzi, Viviana Pensato, et al.Journal of Medical Genetics|April 17, 2008
Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotypeD Lambrechts, K Poesen, R Fernández-Santiago, et al.The Lancet. Neurology|March 20, 2024
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialEugenio Mercuri, Juan J Vilchez, Odile Boespflug-Tanguy, et al.Pageof 35