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Frontiers in Pediatrics|October 10, 2022
Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniquesMariangela Martino, Jacopo Sartorelli, Vincenza Gragnaniello, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 17, 2025
Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center studyVito Luigi Colona, Lorena Travaglini, Jacopo Sartorelli, et al.Brain Sciences|February 26, 2025
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive AtaxiaJacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, et al.Epilepsy & Behavior : E&B|August 12, 2015
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizuresMarina Trivisano, Pasquale Striano, Jacopo Sartorelli, et al.Cerebellum (London, England)|September 23, 2024
De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein ElevationJacopo Sartorelli, Lorena Travaglini, Vito Luigi Colona, et al.Neuropediatrics|February 6, 2025
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous VariantsJacopo Sartorelli, Lorena Travaglini, Giacomo Garone, et al.Journal of the Neurological Sciences|February 6, 2026
Plasma neurofilament light chain in pediatric hereditary spastic paraplegiaJacopo Sartorelli, Sara Petrillo, Giacomo De Luca, et al.Cell Death and Differentiation|March 13, 2019
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neuronsDavide Aprile, Floriana Fruscione, Simona Baldassari, et al.Molecular Genetics and Metabolism|March 15, 2026
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotypeJacopo Sartorelli, Paulo Sgobbi, Roberta Battini, et al.Seizure|August 23, 2024
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsyAngela De Dominicis, Fabrizia Stregapede, Vito Luigi Colona, et al.Pageof 2