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Neurology|August 5, 2024
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian NetworkSara Bortolani, Marco Savarese, Gaetano Vattemi, et al.Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.Journal of Cachexia, Sarcopenia and Muscle|April 25, 2025
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRIJose Verdu-Diaz, Carla Bolano-Díaz, Alejandro Gonzalez-Chamorro, et al.Brain : a Journal of Neurology|September 3, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathyJorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.Neurology. Genetics|July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem ProteinopathyMarianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.Pageof 16