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Journal of the Peripheral Nervous System : JPNS|June 15, 2007
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin MLuana Benedetti, Chiara Briani, Marina Grandis, et al.
Orphanet Journal of Rare Diseases|October 6, 2018
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"Marina Grandis, Alessandro Geroldi, Rossella Gulli, 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.
Journal of Medical Genetics|June 13, 2024
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluationAlessandro Geroldi, Alessia Mammi, Andrea Gaudio, et al.
Neurology. Genetics|May 11, 2026
Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-AnalysisSara Massucco, Mehrnaz Hamedani, Marta Ponzano, et al.
Human Molecular Genetics|March 14, 2008
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutationsMarina Grandis, Tiziana Vigo, Mario Passalacqua, et al.
JACC. Cardiovascular Imaging|December 23, 2019
Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac AmyloidosisMaria Beatrice Musumeci, Francesco Cappelli, Domitilla Russo, et al.
Human Molecular Genetics|July 31, 2022
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanismFrancesca A Veneri, Valeria Prada, Rosa Mastrangelo, et al.
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