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Gene Therapy|June 18, 2025
Thrombotic microangiopathy following gene therapy for 5q-spinal muscular atrophyClara Gontijo Camelo, Rodrigo Holanda Mendonça, Cristiane Araújo Martins Moreno, et al.Arquivos De Neuro-Psiquiatria|February 5, 2024
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophyEdmar Zanoteli, Alexandra Prufer de Queiróz Campos Araujo, Michele Michelin Becker, et al.Acta Neuropathologica|June 21, 2019
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathyJacob A Ross, Yotam Levy, Michela Ripolone, et al.The New England Journal of Medicine|August 13, 2025
Risdiplam in Presymptomatic Spinal Muscular AtrophyRichard S Finkel, Laurent Servais, Dmitry Vlodavets, et al.Acta Neuropathologica Communications|December 17, 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathyNatasha Ranu, Jenni Laitila, Hannah F Dugdale, et al.Annals of Clinical and Translational Neurology|July 23, 2022
GGPS1-associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, et al.Arquivos De Neuro-Psiquiatria|August 17, 2017
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectivesAlexandra P Q C Araujo, Alzira A S de Carvalho, Eduardo B U Cavalcanti, et al.Neurobiology of Aging|February 12, 2015
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositisQiang Gang, Conceicao Bettencourt, Pedro M Machado, et al.Journal of Neurology|February 1, 2018
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndromeEduardo de Paula Estephan, Cláudia Ferreira da Rosa Sobreira, André Clériston José Dos Santos, et al.Muscle & Nerve|April 7, 2018
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvementIvana Dabaj, Robert Y Carlier, David Gómez-Andrés, et al.Pageof 16