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Journal of Neurochemistry|March 16, 2026
Neurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 DeficiencyAnna Pistocchi, Elena Chiricozzi, Matilde Molteni, et al.Journal of the Peripheral Nervous System : JPNS|May 28, 2016
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)Giuseppe Piscosquito, Paola Saveri, Stefania Magri, et al.Journal of Proteome Research|June 18, 2025
Correlation Networks To Uncover Changes in Protein Relationships in Spinocerebellar Ataxia Type 2 and Cerebellar Multiple System AtrophyAurelia Morabito, Giulia De Simone, Stefania Magri, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 16, 2020
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian populationAlessia Mongelli, Stefania Magri, Elena Salvatore, et al.Stem Cell Research|December 24, 2022
Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A geneSerena Santangelo, Patrizia Bossolasco, Stefania Magri, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|July 14, 2021
Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathyRoberta Solazzi, Barbara Castellotti, Laura Canafoglia, et al.Neurosci|November 24, 2025
Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature ReviewFrancesca Ragona, Giuliana Messina, Stefania Magri, et al.Journal of the Peripheral Nervous System : JPNS|March 8, 2019
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 geneStefano Tozza, Stefania Magri, Elena Maria Pennisi, et al.Journal of Clinical Medicine|February 8, 2020
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic FormsViviana Pensato, Stefania Magri, Eleonora Dalla Bella, et al.Human Mutation|September 26, 2018
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentationStefania Magri, Valentina Fracasso, Massimo Plumari, et al.Pageof 6