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Clinical Chemistry|August 4, 2019
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular DystrophyWalinka van Tol, Monique van Scherpenzeel, Mohammad Alsady, et al.
Journal of Neurology|May 16, 2017
Muscle MRI in neutral lipid storage disease (NLSD)Matteo Garibaldi, Giorgio Tasca, Jordi Diaz-Manera, et al.
Research in Psychotherapy (Milano)|March 18, 2024
Models of practice and training in psychotherapy: cross-national perspectives from Italy and CanadaVictoria Klimkowski, Sofia McRae, Alexia Blick, et al.
Journal of Medical Genetics|October 19, 2014
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1Johann Böhm, Frédéric Chevessier, Catherine Koch, et al.
Cell Death & Disease|January 29, 2026
Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophyMassimo Ganassi, Claudia Strafella, Marco Savarese, et al.
Nature Genetics|February 28, 2012
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyJaakko Sarparanta, Per Harald Jonson, Christelle Golzio, et al.
Neuromuscular Disorders : NMD|November 13, 2025
Novel missense variants associated with GNE myopathyJohanna Ranta-Aho, Viviana Cetrangolo, Luca Bello, et al.
Journal of Molecular Neuroscience : MN|April 24, 2016
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian PatientsDaniela Piga, Francesca Magri, Dario Ronchi, et al.
Acta Neuropathologica Communications|May 24, 2025
Evaluation of aggrephagy markers in myofibrillar myopathiesEliana Iannibelli, Alessandra Ruggieri, Antonello Maruotti, et al.
Brain : a Journal of Neurology|November 22, 2011
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trialsKaren Anthony, Sebahattin Cirak, Silvia Torelli, et al.
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