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Frontiers in Neurology|May 16, 2020
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na<sub>v</sub>1.4Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, et al.Annals of Clinical and Translational Neurology|April 25, 2020
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiencyDario Ronchi, Edoardo Monfrini, Sara Bonato, et al.Neurology. Genetics|April 24, 2023
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 DeficiencyEdoardo Monfrini, Alba Pesini, Fabio Biella, et al.Blood|August 1, 1980
Hemoglobin synthesis in individual bursts from normal adult blood: all bursts and subcolonies synthesize G gamma-and A gamma-globin chainsC Peschle, G Migliaccio, A Covelli, et al.Journal of the Neurological Sciences|November 13, 2008
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunctionStefania Corti, Chiara Donadoni, Dario Ronchi, et al.Journal of Inherited Metabolic Disease|April 10, 2009
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 geneC Lamperti, S Salani, S Lucchiari, et al.Journal of Biomedical Science|January 4, 2026
AAV9 gene therapy optimization for SMARD1/CMT2S: safety and long-term efficacy comparison of two vectors in a SMARD1 preclinical modelElisa Pagliari, Alessia Anastasia, Floriana Bellandi, et al.Human Mutation|June 21, 2006
McArdle disease: the mutation spectrum of PYGM in a large Italian cohortClaudio Bruno, Denise Cassandrini, Andrea Martinuzzi, et al.Science Translational Medicine|December 21, 2012
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophyStefania Corti, Monica Nizzardo, Chiara Simone, et al.Parkinsonism & Related Disorders|March 10, 2019
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathyEdoardo Monfrini, Letizia Straniero, Sara Bonato, et al.Pageof 35