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The Journal of Clinical Investigation|January 28, 2014
Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturationShingo Kariya, Teresa Obis, Caterina Garone, et al.Journal of Child Neurology|September 22, 2016
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement DisorderCaterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, et al.Frontiers in Cell and Developmental Biology|June 6, 2022
Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition MetalsMichele Brischigliaro, Denis Badocco, Rodolfo Costa, et al.Biomedicines|August 6, 2021
Role of PITRM1 in Mitochondrial Dysfunction and NeurodegenerationDario Brunetti, Alessia Catania, Carlo Viscomi, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 27, 2024
The striking differences in the bioenergetics of brain and liver mitochondria are enhanced in mitochondrial diseaseValeria Balmaceda, Timea Komlódi, Marten Szibor, et al.Data in Brief|July 14, 2016
Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defectNikola Kovářová, Petr Pecina, Hana Nůsková, et al.Clinical Chemistry|February 16, 2026
Characterization of STRC Gene Conversions by Nanopore SequencingChiara Rigon, Ugo Sorrentino, Sara Volta, et al.Biochimica Et Biophysica Acta|January 26, 2016
Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defectsNikola Kovářová, Petr Pecina, Hana Nůsková, et al.Journal of Child Neurology|April 25, 2026
Novel Homozygous TUBGCP6 Variant Impairs Brain Development: Case Report and Literature ReviewSilvia Lelli, Giulia Balletto, Isabelle Bacchi, et al.Brain Communications|June 19, 2026
Disease burden of untreated thymidine kinase 2 deficiency: insights from a large patient datasetCristina Domínguez-González, Caterina Garone, Andrés Nascimento, et al.Pageof 15