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Journal of Cellular Biochemistry|January 23, 2009
Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 geneMartha Elisa Vazquez-Memije, Teresa Rizza, Maria Chiara Meschini, et al.Neurogenetics|January 26, 2019
Clinical and molecular studies in two new cases of ARSACSIvana Ricca, Federica Morani, Giacomo Maria Bacci, et al.Biomolecules|September 27, 2025
The First Heterozygous <i>TWNK</i> Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial DiseasesDiego Lopergolo, Gianna Berti, Gian Nicola Gallus, et al.Neuropediatrics|December 1, 2021
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial DiseaseAlfonso Rubino, Giorgia Bruno, Federica Mazio, et al.Biomedicines|August 26, 2022
A Review on the Bioactivity of Cannabinoids on Zebrafish Models: Emphasis on NeurodevelopmentRosario Licitra, Maria Marchese, Valentina Naef, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 16, 2025
A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophyValeria Gioiosa, Christian Marcotulli, Manon Degoutin, et al.Neuropediatrics|August 7, 2023
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of SpeechDaniela Formicola, Irina Podda, Marilena Pantaleo, et al.The Journal of Biological Chemistry|June 17, 2003
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoformsGiuseppe Fiermonte, Vincenza Dolce, Laura David, et al.American Journal of Human Genetics|July 30, 2002
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneEleonore Eymard-Pierre, Gaetan Lesca, Sandra Dollet, et al.Journal of Neuroscience Research|December 31, 2005
Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicalsMarco Sparaco, Laura Maria Gaeta, Giulia Tozzi, et al.Pageof 20