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Chiara Fiorillo

Showing results (61-70 of 142) with videos related to

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Neurology. Clinical Practice|November 16, 2022
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic AbnormalitiesSara Signa, Noemi Brolatti, Chiara Trincianti, et al.
Frontiers in Neurology|November 15, 2023
Case report: Episodic ataxia without ataxia?Andrea Gaudio, Fabio Gotta, Clarissa Ponti, et al.
Human Mutation|December 6, 2013
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentChiara Fiorillo, Francesca Moro, Julie Yi, et al.
Journal of Human Genetics|March 21, 2018
Clinical and molecular consequences of exon 78 deletion in DMD geneMonica Traverso, Stefania Assereto, Serena Baratto, et al.
Frontiers in Pediatrics|April 24, 2025
Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care settingGiacomo Brisca, Marina F Strati, Francesca Canzoneri, et al.
Journal of Child Neurology|August 18, 2025
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of <i>HADHA</i>-Related Disorder/ Mitochondrial Trifunctional Protein DefectGiulia Balletto, Giulia Barbagallo, Matteo Cataldi, et al.
Frontiers in Neurology|July 29, 2021
Neuromuscular and Neuroendocrinological Features Associated With <i>ZC4H2</i>-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case ReportGianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, et al.
Cell Death & Disease|May 12, 2026
Emerin is necessary for microtubule-organizing center translocation to the nuclear envelope of muscle cellsElisabetta Mattioli, Vittoria Cenni, Patrizia Sabatelli, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|February 26, 2024
Skeletal muscle involvement in biallelic <i>SORD</i> mutations: case report and review of the literatureSara Massucco, Chiara Gemelli, Emilia Bellone, et al.
Neuromuscular Disorders : NMD|January 19, 2021
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathyAngela Zuppa, Chiara De Michelis, Giuseppe Meo, et al.
Pageof 15

Showing results (61-70 of 142) with videos related to

Sort By:
Pageof 15
Neurology. Clinical Practice|November 16, 2022
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic AbnormalitiesSara Signa, Noemi Brolatti, Chiara Trincianti, et al.
Frontiers in Neurology|November 15, 2023
Case report: Episodic ataxia without ataxia?Andrea Gaudio, Fabio Gotta, Clarissa Ponti, et al.
Human Mutation|December 6, 2013
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentChiara Fiorillo, Francesca Moro, Julie Yi, et al.
Journal of Human Genetics|March 21, 2018
Clinical and molecular consequences of exon 78 deletion in DMD geneMonica Traverso, Stefania Assereto, Serena Baratto, et al.
Frontiers in Pediatrics|April 24, 2025
Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care settingGiacomo Brisca, Marina F Strati, Francesca Canzoneri, et al.
Journal of Child Neurology|August 18, 2025
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of <i>HADHA</i>-Related Disorder/ Mitochondrial Trifunctional Protein DefectGiulia Balletto, Giulia Barbagallo, Matteo Cataldi, et al.
Frontiers in Neurology|July 29, 2021
Neuromuscular and Neuroendocrinological Features Associated With <i>ZC4H2</i>-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case ReportGianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, et al.
Cell Death & Disease|May 12, 2026
Emerin is necessary for microtubule-organizing center translocation to the nuclear envelope of muscle cellsElisabetta Mattioli, Vittoria Cenni, Patrizia Sabatelli, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|February 26, 2024
Skeletal muscle involvement in biallelic <i>SORD</i> mutations: case report and review of the literatureSara Massucco, Chiara Gemelli, Emilia Bellone, et al.
Neuromuscular Disorders : NMD|January 19, 2021
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathyAngela Zuppa, Chiara De Michelis, Giuseppe Meo, et al.
Pageof 15