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STAR Protocols|April 28, 2022
Measurement of mitochondrial respiratory chain enzymatic activities in Drosophila melanogaster samplesMichele Brischigliaro, Elena Frigo, Erika Fernandez-Vizarra, et al.
Mitochondrion|December 21, 2010
Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndromeGeorg M Stettner, Carlo Viscomi, Massimo Zeviani, et al.
The Journal of Biological Chemistry|August 5, 2004
Interaction of the pacemaker channel HCN1 with filamin ABiagio Gravante, Andrea Barbuti, Raffaella Milanesi, et al.
Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.
International Journal of Molecular Sciences|July 27, 2024
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory VomitingBeatrice Berti, Daniela Verrigni, Alessia Nasca, et al.
Molecular Therapy. Methods & Clinical Development|June 2, 2020
A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4 MicePedro Silva-Pinheiro, Raffaele Cerutti, Marta Luna-Sanchez, et al.
EMBO Molecular Medicine|September 24, 2020
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex IAhmad Alahmad, Alessia Nasca, Juliana Heidler, et al.
Microbes and Environments|September 21, 2016
Diversity of Methane-Oxidizing Bacteria in Soils from "Hot Lands of Medolla" (Italy) Featured by Anomalous High-Temperatures and Biogenic CO2 EmissionMartina Cappelletti, Daniele Ghezzi, Davide Zannoni, et al.
BMJ Case Reports|May 4, 2026
β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduriaGiulia Ferrera, Sara Boenzi, Eleonora Lamantea, et al.
EMBO Molecular Medicine|August 21, 2012
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathyIvano Di Meo, Alberto Auricchio, Costanza Lamperti, et al.
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