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Clinical Genetics|May 15, 2024
Genetic profile of Brazilian patients with LAMA2-related dystrophiesClara Gontijo Camelo, Cristiane de Araujo Martins Moreno, Mariana da Cunha Artilheiro, et al.
Muscle & Nerve|July 27, 2022
Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical ScoresLaís U Aivazoglou, Julio B Guimarães, Maria Alice F Costa, et al.
Journal of Neuromuscular Diseases|May 20, 2026
Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohortCristiane Araujo Martins Moreno, Tatiana Ribeiro Fernandes, Clara Gontijo Camelo, et al.
Neurology. Genetics|October 16, 2020
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotypeLucas Santos Souza, Camila Freitas Almeida, Guilherme Lopes Yamamoto, et al.
Journal of Neuropathology and Experimental Neurology|July 28, 2022
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic AggregatesAndré Macedo Serafim Silva, Patricia Rodrigo, Cristiane Araújo Martins Moreno, et al.
Arquivos De Neuro-Psiquiatria|March 23, 2026
Unmet Needs in the Care of Patients with Duchenne Muscular Dystrophy in BrazilAlexandra Prufer de Queiroz Campos Araujo, Andre Vinícius Soares Barbosa, Michele Michelin Becker, et al.
The Lancet. Child & Adolescent Health|July 1, 2026
Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trialMaria Mazurkiewicz-Bełdzińska, Laurent Servais, Giovanni Baranello, et al.
The Lancet. Neurology|October 16, 2022
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trialRiccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, et al.
International Journal of Molecular Sciences|October 14, 2022
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical CharacterizationJuliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L Yamamoto, et al.
Neurology. Genetics|January 30, 2023
Clinical Manifestation of Nebulin-Associated Nemaline MyopathyCristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, et al.
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