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Neuromuscular Disorders : NMD|November 27, 2004
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutationAntonella Spinazzola, Franco Carrara, Marina Mora, et al.
Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association|July 25, 2012
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 geneAbdulaziz AlSaman, Hoda Tomoum, Federica Invernizzi, et al.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
Frontiers in Neurology|March 16, 2019
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial PatientsOlimpia Musumeci, Emanuele Barca, Costanza Lamperti, et al.
Pharmaceutics|November 14, 2020
Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" StrategiesEmanuela Bottani, Costanza Lamperti, Alessandro Prigione, et al.
Biochimica Et Biophysica Acta. Bioenergetics|December 8, 2022
Xenotopic expression of alternative oxidase (AOX) to study mechanisms of mitochondrial diseaseCarlo Viscomi, Anthony L Moore, Massimo Zeviani, et al.
Plos Genetics|August 1, 2020
RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPasesAurelio Reyes, Paola Favia, Sara Vidoni, et al.
The Lancet. Neurology|September 21, 2013
Peripheral neuropathy in mitochondrial disordersDavide Pareyson, Giuseppe Piscosquito, Isabella Moroni, et al.
Neuromuscular Disorders : NMD|October 16, 2004
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) geneVincenza Fetoni, Egill Briem, Franco Carrara, et al.
Brain : a Journal of Neurology|October 21, 2022
Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- miceSamantha Corrà, Raffaele Cerutti, Valeria Balmaceda, et al.
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