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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 Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.Journal of Neurology|March 15, 2011
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-upFrancesca Magri, Alessandra Govoni, Maria Grazia D'Angelo, et al.Journal of Inherited Metabolic Disease|February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensusMaaike C De Vries, David A Brown, Mitchell E Allen, et al.Biological Reviews of the Cambridge Philosophical Society|November 30, 2025
The return of metabolism: biochemistry and physiology of glycolysisNana-Maria Grüning, Federica Agostini, Camila Caldana, et al.Neurogenetics|January 5, 2020
Mitochondrial epilepsy: a cross-sectional nationwide Italian surveyChiara Ticci, Federico Sicca, Anna Ardissone, et al.Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, et al.Muscle & Nerve|June 15, 2010
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical scoreCostanza Lamperti, Greta Fabbri, Liliana Vercelli, et al.Archives of Neurology|May 10, 2006
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegiaFrancesca Crippa, Chris Panzeri, Andrea Martinuzzi, et al.Pageof 13