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International Journal of Molecular Sciences|January 25, 2025
De Novo <i>DNM1L</i> Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature ReviewMartina Magistrati, Luisa Zupin, Eleonora Lamantea, et al.Orphanet Journal of Rare Diseases|April 5, 2018
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureAnna Ardissone, Davide Tonduti, Andrea Legati, et al.Journal of Neurology|March 22, 2015
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutationsMaria A Rocca, Stefania Bianchi-Marzoli, Roberta Messina, et al.Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.Frontiers in Neurology|June 28, 2021
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic VariantsLorenzo Peverelli, Alessia Catania, Silvia Marchet, et al.JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.Orphanet Journal of Rare Diseases|October 10, 2021
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseasesAnna Ardissone, Claudio Bruno, Daria Diodato, et al.Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.Pageof 9