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Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|June 28, 2011
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALSMario Sabatelli, Marcella Zollino, Marco Luigetti, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 18, 2009
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosisMarco Luigetti, Amelia Conte, Francesca Madia, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 26, 2019
Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single centerMarco Luigetti, Andrea Di Paolantonio, Giulia Bisogni, et al.European Journal of Medical Genetics|December 4, 2025
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansionFerruccio Romano, Mohammad Sadegh Shams Nosrati, Francesca Madia, et al.Journal of the Peripheral Nervous System : JPNS|August 21, 2009
pSTAT1, pSTAT3, and T-bet as markers of disease activity in chronic inflammatory demyelinating polyradiculoneuropathyFrancesca Madia, Giovanni Frisullo, Viviana Nociti, et al.Clinical Genetics|January 7, 2026
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain MalformationsAnees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, et al.Frontiers in Oncology|June 26, 2020
Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot StudyFederica Garibotto, Francesca Madia, Claudia Milanaccio, et al.Epilepsia Open|February 13, 2026
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domainAnees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, et al.Brain & Development|April 13, 2022
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature reviewGianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, et al.American Journal of Medical Genetics. Part A|July 20, 2024
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansionCristina Chelleri, Noemi Brolatti, Patrizia De Marco, et al.Pageof 8