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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.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.Neurobiology of Aging|July 11, 2016
Mutational analysis of COQ2 in patients with MSA in ItalyDario Ronchi, Ernesto Di Biase, Giulia Franco, et al.Stem Cell Reports|October 23, 2018
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System AtrophyGiacomo Monzio Compagnoni, Giulio Kleiner, Maura Samarani, 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.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|September 4, 2024
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions DiseaseAgustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon, et al.Muscle & Nerve|May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisFrancesca Magri, Vincenzo Nigro, Corrado Angelini, et al.Journal of Neurology|March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.Pageof 12