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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.Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.Neurology. Genetics|March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 DeficiencyFrancisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, 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.European Journal of Neurology|December 28, 2020
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlationMarina Frasquet, Ricard Rojas-García, Herminia Argente-Escrig, et al.Neuromuscular Disorders : NMD|November 18, 2015
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genesJordi Díaz-Manera, Aida Alejaldre, Laura González, et al.Neuropathology and Applied Neurobiology|June 9, 2025
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological InsightsIrene Madrigal, Cristina Villar-Vera, Gemma Arca, et al.Muscle & Nerve|August 2, 2018
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-upDavid GóMez-Andrés, Jordi Díaz-Manera, Aida Alejaldre, et al.Neurology|June 29, 2018
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spineMacarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|July 23, 2025
Efficacy and safety of efavirenz in Niemann-Pick disease type CJordi Gascón-Bayarri, Inmaculada Rico, Cristina Sánchez-Castañeda, et al.Pageof 6