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Journal of Neurology|September 10, 2020
CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansionsNatalia Dominik, Valentina Galassi Deforie, Andrea Cortese, et al.Der Nervenarzt|May 6, 2020
[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]Tobias Meindl, Isabell Cordts, Anna-Lisa Scherzer, et al.Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.Nature Medicine|October 1, 2024
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.Medrxiv : the Preprint Server for Health Sciences|July 18, 2023
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.Brain : a Journal of Neurology|May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathyRiccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.Nature Communications|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actinBeth L Woodward, Sudipta Lahiri, Anoop S Chauhan, et al.Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.Pageof 1