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2019 2
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Page 1
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, Gardeitchik T, Kamsteeg EJ, Medici E, Kaat LD, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Genetti CA, Valivullah ZM, Milic V, Kovacevic G, Kosac A, Moreno CAM, Camelo CG, Zanoteli E, Fahey MC, Beggs AH, Vissing J, Straub V, Savarese M, Tasca G, Voermans N, Laing NG, Udd B, Nishino I, Ravenscroft G. Johari M, et al. Among authors: camelo cg. medRxiv [Preprint]. 2025 Jun 28:2025.06.26.25330266. doi: 10.1101/2025.06.26.25330266. medRxiv. 2025. PMID: 40666348 Free PMC article. Preprint.
Hypoglycemia in Patients With LAMA2-CMD.
Camelo CG, Martins Moreno CA, Artilheiro MC, Serafim Silva AM, Quadros Monteiro Fonseca AT, Mendonça de Holanda R, Reed UC, Zanoteli E. Camelo CG, et al. Pediatr Neurol. 2023 Jun;143:1-5. doi: 10.1016/j.pediatrneurol.2023.01.017. Epub 2023 Feb 7. Pediatr Neurol. 2023. PMID: 36934516
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.
Moreno CAM, Artilheiro MC, Fonseca ATQSM, Camelo CG, de Medeiros GC, Sassi FC, de Andrade CRF, Donkervoort S, Silva AMS, Dalfior-Junior L, Abath-Neto OL, Reed UC, Bönnemann C, Zanoteli E. Moreno CAM, et al. Among authors: camelo cg. Neurol Genet. 2023 Jan 25;9(1):e200056. doi: 10.1212/NXG.0000000000200056. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 36714460 Free PMC article.
Thrombotic microangiopathy following gene therapy for 5q-spinal muscular atrophy.
Camelo CG, Mendonça RH, Moreno CAM, Ferreira JCOA, Ortega AB, van der Linden V, Campos RSM, van der Linden H, da Cunha NSC, Gurgel-Giannetti J, Chaves JM, Miranda SMC, Ziegler A, Zanoteli E. Camelo CG, et al. Gene Ther. 2025 Jun 19. doi: 10.1038/s41434-025-00545-6. Online ahead of print. Gene Ther. 2025. PMID: 40533496
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.
Moreno CAM, Artilheiro MC, Fonseca ATQSM, da Silva AMS, Fernandes TR, Camelo CG, Paiva MA, di Pace FT, Pessoa ALS, Braga VLL, Mariano TC, de Paula Estephan E, da Penha Morita M, Covaleski APPM, Van der Linden V, Tomaselli PJ, Scarpellini GR, Gurgel-Giannetti J, Sobrinho LMF, de Oliveira TM, Mendonça RH, Lucas ELS, Cruzeiro MM, Junior CWP, Júnior WM, Sobreira CFDR, Oliveira ASB, Kok F, Hirano M, Nascimento-Osorio A, Schlesinger D, Zanoteli E. Moreno CAM, et al. Among authors: camelo cg. Sci Rep. 2025 Mar 15;15(1):9013. doi: 10.1038/s41598-024-84373-5. Sci Rep. 2025. PMID: 40089535 Free PMC article.
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. Clin Genet. 2024 Sep;106(3):305-314. doi: 10.1111/cge.14538. Epub 2024 May 15. Clin Genet. 2024. PMID: 38747280
Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
Nóbrega PR, de Brito de Souza JL, Maurício RB, de Paiva ARB, Dias DA, Camelo CG, Zanotelli E, Schlesinger D, Braga-Neto P, Moreno CAM. Nóbrega PR, et al. Among authors: camelo cg. Neurol Sci. 2024 Mar;45(3):1225-1231. doi: 10.1007/s10072-023-07128-6. Epub 2023 Oct 18. Neurol Sci. 2024. PMID: 37851294
19 results