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Frontiers in Neurology|September 15, 2018
Reversible Valproate-Induced Subacute Encephalopathy Associated With a Giovanna De Michele, Pierpaolo Sorrentino, Claudia Nesti, et al.Journal of Neurology|June 5, 2016
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findingsAlexandros A Polymeris, Alessandra Tessa, Katherine Anagnostopoulou, et al.Journal of Neurology|February 26, 2016
Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 familyLuca Leonardi, Lucia Ziccardi, Christian Marcotulli, et al.Clinical Genetics|March 6, 2025
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical PhenotypesCamilla Meossi, Alessandro De Falco, Marco Marchi, et al.Genes|July 29, 2023
Congenital Myopathy as a Phenotypic Expression of <i>CACNA1S</i> Gene Mutation: Case Report and Systematic Review of the LiteratureGemma Marinella, Alessandro Orsini, Massimo Scacciati, et al.Annals of Human Genetics|April 14, 2020
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?Fabio Gotta, Merit Lamp, Alessandro Geroldi, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 17, 2010
A second MNGIE patient without typical mitochondrial skeletal muscle involvementElena Cardaioli, Paola Da Pozzo, Edoardo Malfatti, et al.Case Reports in Cardiology|November 29, 2016
MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging ApproachSara Seitun, Laura Massobrio, Anna Rubegni, et al.International Journal of Molecular Sciences|December 9, 2023
Novel <i>COX11</i> Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and <i>Saccharomyces cerevisiae</i>Chenelle A Caron-Godon, Stefania Della Vecchia, Alessandro Romano, et al.Journal of the Neurological Sciences|March 6, 2016
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28Andrea Mignarri, Anna Rubegni, Alessandra Tessa, et al.Pageof 6