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BMJ Case Reports|May 4, 2026
β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduriaGiulia Ferrera, Sara Boenzi, Eleonora Lamantea, et al.
Neuropediatrics|November 7, 2023
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in ChildhoodGiulia Ferrera, Rossella Izzo, Daniele Ghezzi, et al.
Neuromuscular Disorders : NMD|December 4, 2001
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and IIIEleonora Lamantea, Franco Carrara, Caterina Mariotti, et al.
Frontiers in Pediatrics|December 17, 2025
Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in <i>YARS2</i>-associated disease and a review of the literatureGiulia Ferrera, Giorgia Segre, Eleonora Lamantea, et al.
The Journal of Molecular Diagnostics : JMD|March 30, 2021
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNAAndrea Legati, Nadia Zanetti, Alessia Nasca, et al.
European Journal of Neurology|April 11, 2023
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patientsAnna Ardissone, Giulia Ferrera, Costanza Lamperti, et al.
Brain & Development|June 2, 2006
Effects of riboflavin in children with complex II deficiencyMarianna Bugiani, Eleonora Lamantea, Federica Invernizzi, et al.
Molecular Genetics and Metabolism|October 11, 2025
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literatureAlessia Catania, Silvia Marchet, Krisztina Einvag, et al.
European Journal of Human Genetics : EJHG|June 7, 2012
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe formRoberta Biancheri, Camillo Rosano, Laura Denegri, et al.
Frontiers in Genetics|July 17, 2023
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletionsChiara Frascarelli, Nadia Zanetti, Alessia Nasca, et al.
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