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Pediatric Neurology|October 23, 2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's PerspectiveFrancesco Gavazzi, Virali Patel, Jacqueline A Erler, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experienceJacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Parkinsonism & Related Disorders|July 27, 2024
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenologyGiacomo Garone, Alice Innocenti, Melissa Grasso, et al.
JIMD Reports|March 9, 2026
Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, et al.
Molecular Genetics and Metabolism|December 31, 2021
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley SyndromeSilvia Masnada, Catherine Sarret, Clara Eleonora Antonello, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 20, 2016
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndromeDavide Tonduti, Simona Orcesi, Emma M Jenkinson, et al.
Cell Communication and Signaling : CCS|February 3, 2026
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approachesFederica Rey, Alessia Casamassa, Samuele Di Cristofano, et al.
Journal of Child Neurology|July 18, 2023
Gross Motor Function in Pediatric Onset <i>TUBB4A</i>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <i>TUBB4A</i>Francesco Gavazzi, Virali Patel, Brittany Charsar, et al.
Molecular Genetics and Metabolism|February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathiesAdeline Vanderver, Morgan Prust, Davide Tonduti, et al.
Frontiers in Neurology|January 26, 2023
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoringEleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
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