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Frontiers in Neurology|January 31, 2022
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis MachineryElisa Cali, Clarissa Rocca, Vincenzo Salpietro, et al.Cellular and Molecular Life Sciences : CMLS|February 7, 2025
Charcot Marie Tooth disease pathology is associated with mitochondrial dysfunction and lower glutathione productionNafisa R Komilova, Plamena R Angelova, Elisa Cali, et al.Brain & Development|April 13, 2022
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature reviewGianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, et al.Genes|July 29, 2023
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar DisordersSaadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, et al.Journal of Neurology|August 14, 2023
White matter abnormalities in 15 subjects with SPG76Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, et al.Movement Disorders Clinical Practice|February 10, 2022
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.Brain : a Journal of Neurology|February 24, 2022
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephalyChiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, et al.Brain : a Journal of Neurology|October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.Brain Communications|January 4, 2024
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxiaPaulo R Nóbrega, Anderson R B de Paiva, Katiane S Souza, et al.Pageof 2