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Functional Neurology|March 13, 2015
Paraneoplastic cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuromaRoberto Fancellu, Elena Corsini, Giorgio Bernardi, et al.Metabolic Brain Disease|January 24, 2018
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutationsIrene Toldo, Margherita Nosadini, Chiara Boscardin, et al.Brain : a Journal of Neurology|February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.International Journal of Molecular Sciences|August 26, 2023
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) SubjectsMirko Baglivo, Alessia Nasca, Eleonora Lamantea, et al.Acta Neurologica Scandinavica|May 19, 2019
Epileptic phenotypes in children with early-onset mitochondrial diseasesSara Matricardi, Laura Canafoglia, Anna Ardissone, et al.Mitochondrion|October 2, 2010
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast modelEnrico Baruffini, Rita Horvath, Cristina Dallabona, et al.JIMD Reports|February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of LiteratureAnna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.Human Mutation|July 12, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletionsSilvia Marchet, Andrea Legati, Alessia Nasca, et al.Human Molecular Genetics|February 5, 2003
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in miceAlessandro Agostino, Federica Invernizzi, Cecilia Tiveron, et al.Cerebellum (London, England)|November 29, 2022
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian PatientsFabiana Colucci, Marcella Neri, Fernanda Fortunato, et al.Pageof 9