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International Journal of Molecular Sciences|May 27, 2023
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy PhenotypesEmanuele Monda, Michele Lioncino, Martina Caiazza, et al.Journal of Clinical Medicine|February 27, 2026
Analysis of a Real-World Population Participating in a Cardiac Rehabilitation Program: Cognitive Impairment, Functional Capacity, and Therapy TitrationNicola Virtuoso, Francesca Palmieri, Francesco Loria, et al.Genes|March 3, 2021
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle InvolvementAlessandro Vaisfeld, Giorgia Bruno, Martina Petracca, et al.Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 28, 2025
HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish InsightsSerena Mero, Sara Satolli, Daniele Galatolo, et al.Journal of Neurology, Neurosurgery, and Psychiatry|June 6, 2024
Clinical, prognostic and pathophysiological implications of MOG-IgG detection in the CSF: the importance of intrathecal MOG-IgG synthesisGiacomo Greco, Mario Risi, Stefano Masciocchi, et al.Neurology(R) Neuroimmunology & Neuroinflammation|January 17, 2025
Conformational Antibodies to Proteolipid Protein-1 and Its Peripheral Isoform DM20 in Patients With CNS Autoimmune Demyelinating DisordersStefano Masciocchi, Pietro Businaro, Giacomo Greco, et al.Genes|February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related MyopathiesClaudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.Pageof 3