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Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Mroczek M, Zafeiriou D, Gurgel-Gianetti J, Vilela Morais de Azevedo B, Roos A, Bartels E, Kohlschmidt N, Phadke R, Feng L, Duff J, Töpf A, Straub V. Mroczek M, et al. Among authors: gurgel gianetti j. Neuropediatrics. 2021 Oct;52(5):390-393. doi: 10.1055/s-0040-1715625. Epub 2020 Dec 22. Neuropediatrics. 2021. PMID: 33352606
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Camelo CG, Moreno CAM, Artilheiro MDC, Fonseca ATQM, Gurgel Gianetti J, Barbosa AV, Donis KC, Saute JAM, Pessoa A, Van der Linden H Jr, Gonçalves ARA, Kulikowski LD, Kok F, Zanoteli E. Camelo CG, et al. Among authors: gurgel gianetti j. Clin Genet. 2024 Sep;106(3):305-314. doi: 10.1111/cge.14538. Epub 2024 May 15. Clin Genet. 2024. PMID: 38747280