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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 24, 2021
Being adults with cerebral palsy: results of a multicenter Italian study on quality of life and participationEmanuela Pagliano, Tiziana Casalino, Sara Mazzanti, et al.Epilepsy Research|May 7, 2011
A clinical and genetic study of 33 new cases with early-onset absence epilepsyLucio Giordano, Aglaia Vignoli, Patrizia Accorsi, et al.Pediatric Neurology|August 14, 2025
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease SeverityCostanza Varesio, Davide Politano, Laura Adang, et al.Neurology|June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières SyndromeFrancesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.Molecular Genetics and Metabolism|March 23, 2026
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparisonGemma Marinella, Ylenia Vaia, Davide Politano, et al.Molecular Genetics and Metabolism|February 11, 2026
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)Anjana Sevagamoorthy, Francesco Gavazzi, Zarrin Tashnim, et al.Journal of Clinical Medicine|May 28, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewJessica Garau, Vanessa Cavallera, Marialuisa Valente, et al.Ebiomedicine|August 27, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M Al Shamsi, et al.Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.Pageof 7