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American Journal of Medical Genetics. Part A|July 26, 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island populationMarianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, 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.Annals of Clinical and Translational Neurology|August 30, 2023
Expanding the spectrum of neonatal-onset AIFM1-associated disordersAlberto A Zambon, Daniele Ghezzi, Cristina Baldoli, et al.Journal of Neurology|October 28, 2016
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypesAlessandra Torraco, Anna Ardissone, Federica Invernizzi, et al.Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.Orphanet Journal of Rare Diseases|May 13, 2017
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsAlessia Nasca, Teresa Rizza, Mara Doimo, et al.Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.Pageof 9