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International Journal of Molecular Sciences|March 6, 2021
Statin-Induced Myopathy: Translational Studies from Preclinical to Clinical EvidenceGiulia Maria Camerino, Nancy Tarantino, Ileana Canfora, et al.Frontiers in Neurology|July 14, 2020
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) DeficienciesOlimpia Musumeci, Edoardo Ferlazzo, Carmelo Rodolico, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 26, 2026
Cognitive impairment in hereditary spastic paraparesis: An overlooked aspect of a motor disorderGrazia Maria Igea Falcone, Lilla Bonanno, Anita Maria Stella Graceffa, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 26, 2010
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathyOlimpia Musumeci, Maria Teresa Bassi, Anna Mazzeo, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 13, 2020
Ultrasound assessment of diaphragm function in patients with late-onset Pompe diseasePaolo Ruggeri, Lucia Lo Monaco, Olimpia Musumeci, et al.Journal of the Neurological Sciences|January 26, 2002
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's diseaseGeorgios M Hadjigeorgiou, Alexandros Papadimitriou, Olimpia Musumeci, et al.Neuromuscular Disorders : NMD|May 31, 2022
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathyOlimpia Musumeci, Alessia Pugliese, Rosaria Oteri, et al.Journal of Neurology|June 16, 2025
Clinical and therapeutic clues from a long-term follow-up: a single center experience on a large LOPD populationAlessia Pugliese, Mattia Porcino, Selene Francesca Anna Drago, et al.Neurology. Genetics|June 3, 2026
HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset PatientsGrazia Maria Igea Falcone, Alessandra Tessa, Cristiano Rizzo, et al.Frontiers in Neurology|March 14, 2022
Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical ProgressionArianna Manini, Megi Meneri, Carmelo Rodolico, et al.Pageof 12