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European Journal of Neurology|March 14, 2022
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum wideningPaola Saveri, Stefania Magri, Emanuela Maderna, et al.
Epilepsia Open|August 31, 2024
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approachBarbara Castellotti, Francesca Ragona, Elena Freri, et al.
Frontiers in Genetics|March 16, 2026
Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patientSerena Santangelo, Valeria Casiraghi, Claudia Fallini, et al.
Annals of Clinical and Translational Neurology|May 4, 2021
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutationsElena Abati, Stefania Magri, Megi Meneri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 17, 2023
Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar AtaxiaLorenzo Nanetti, Stefania Magri, Mario Fichera, et al.
Frontiers in Neurology|January 24, 2022
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the LiteratureLorenzo Nanetti, Daniela Di Bella, Stefania Magri, et al.
Epilepsia Open|January 31, 2023
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypesBarbara Castellotti, Laura Canafoglia, Elena Freri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, et al.
Journal of Neurology|December 6, 2018
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotypeLorenzo Nanetti, Elisa Sarto, Anna Castaldo, et al.
European Journal of Neurology|November 15, 2020
Hypomyelinating leukodystrophies in adults: Clinical and genetic featuresDaniela Di Bella, Stefania Magri, Chiara Benzoni, et al.
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