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Mitochondrion|April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in ItalyMichelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.Stem Cell Research|March 29, 2024
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>ACamille Peron, Andrea Cavaliere, Chiara Fasano, et al.Journal of Medical Genetics|October 29, 2017
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathyAndrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, et al.Journal of the Neurological Sciences|September 20, 2005
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsyMonica Sciacco, Alessandro Prelle, Gigliola Fagiolari, et al.Clinical Therapeutics|March 14, 2025
PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label TrialSilvia Marchet, Alessia Catania, Anna Ardissone, et al.Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.American Journal of Human Genetics|June 23, 2015
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyAurelio Reyes, Laura Melchionda, Alessia Nasca, et al.Human Mutation|August 16, 2005
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophiesRachele Cagliani, Francesca Magri, Antonio Toscano, et al.Human Mutation|June 21, 2006
McArdle disease: the mutation spectrum of PYGM in a large Italian cohortClaudio Bruno, Denise Cassandrini, Andrea Martinuzzi, et al.Acta Ophthalmologica|September 20, 2017
Retinal dysfunction characterizes subtypes of dominant optic atrophyMaria Lucia Cascavilla, Vincenzo Parisi, Giacinto Triolo, et al.Pageof 13