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Journal of Neuromuscular Diseases|February 19, 2025
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world dataMahmoud Reza Ashrafi, Marzieh Babaee, Seyed Saeed Hashemi Nazari, et al.Biorxiv : the Preprint Server for Biology|January 23, 2024
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disordersChunyang Ni, Leqian Yu, Barbara Vona, et al.American Journal of Human Genetics|October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemiaScott Barish, Sheng-Jia Lin, Reza Maroofian, et al.Human Mutation|January 10, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)Saeed R Ghaffari, Maryam Rafati, Mahdi Shadnoush, et al.BMC Neurology|March 30, 2022
The safety and efficacy of umbilical cord blood mononuclear cells in individuals with spastic cerebral palsy: a randomized double-blind sham-controlled clinical trialMorteza Zarrabi, Masood Ghahvechi Akbari, Man Amanat, et al.Journal of Neuromuscular Diseases|February 13, 2023
The First Report of Iranian Registry of Patients with Spinal Muscular AtrophyVahid Mansouri, Morteza Heidari, Maryam Bemanalizadeh, et al.Neurogenetics|August 19, 2023
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy RegistryMahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, et al.Nature Cell Biology|August 5, 2025
A programmed decline in ribosome levels governs human early neurodevelopmentChunyang Ni, Yudong Wei, Barbara Vona, et al.Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.Pageof 9