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European Journal of Neurology|January 8, 2026
Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor NeuropathiesMaría Payá, Sofía Portela, Rafael Sivera, et al.Neuropathology and Applied Neurobiology|March 28, 2022
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathyHerminia Argente-Escrig, Juan J Vílchez, Marina Frasquet, et al.Journal of Neurology|April 14, 2026
Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progressionKarolina Aragon-Gawinska, Pilar Martí, Inmaculada Azorín, et al.Journal of Neurology|January 8, 2025
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathiesNuria Muelas, Lidón Carretero-Vilarroig, Pilar Martí, et al.Annals of Clinical and Translational Neurology|October 7, 2025
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein InsightsNuria Muelas, Pablo Iruzubieta, Alberto Damborenea, et al.Neurology|March 21, 2024
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth DiseaseRafael Sivera, Ana L Pelayo-Negro, Ivonne Jericó, et al.Pageof 2