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Page 1
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: moreno cam. Clin Genet. 2024 May 15. doi: 10.1111/cge.14538. Online ahead of print. Clin Genet. 2024. PMID: 38747280
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: moreno cam. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: moreno cam. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. PMID: 37873269 Free PMC article. Preprint.
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: moreno cam. Neurol Sci. 2024 Mar;45(3):1225-1231. doi: 10.1007/s10072-023-07128-6. Epub 2023 Oct 18. Neurol Sci. 2024. PMID: 37851294
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Paiva ARB, Pessoa ALS, Nóbrega PR, Moreno CAM, Lynch DS, Taniguti LM, Kitajima JP, Freua F, Della-Ripa B, Cunha P, Peixoto de Barcelos I, Macedo-Souza LI, Takeuchi CA, Garcia AMS, Nardes F, Fontão R, Antoniuk SA, Troncoso M, Spécola N, Durand C, Madeiro BACS, Doriqui MJR, Vergara D, Houlden H, Kok F. Paiva ARB, et al. Among authors: moreno cam. J Neurol Neurosurg Psychiatry. 2023 May;94(5):405-408. doi: 10.1136/jnnp-2022-330135. Epub 2023 Feb 3. J Neurol Neurosurg Psychiatry. 2023. PMID: 36737246 No abstract available.
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. Neurol Genet. 2023 Jan 25;9(1):e200056. doi: 10.1212/NXG.0000000000200056. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 36714460 Free PMC article.
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.
Moreno CAM, Camelo CG, Sampaio PHMA, Fonseca ATQSM, Estephan EP, Silva AMS, Pirola RN, Silva LHL, Lima KDF, Albuquerque MAV, Camelo Filho AE, Marques MVO, Yanagiura MT, Cavalcante WCP, Matsui Junior C, Isihi LMA, Mendonça RH, Pouza AFP, Carvalho MS, Reed UC, Zanoteli E. Moreno CAM, et al. Arq Neuropsiquiatr. 2022 Jun;80(6):563-569. doi: 10.1590/0004-282X-ANP-2021-0166. Arq Neuropsiquiatr. 2022. PMID: 35946707 Free PMC article.
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
Silva AMS, Rodrigo P, Moreno CAM, Mendonça RH, Estephan EP, Camelo CG, Campos ED, Dias AT, Nascimento AM, Kulikowski LD, Oliveira ASB, Reed UC, Goldfarb LG, Olivé M, Zanoteli E. Silva AMS, et al. Among authors: moreno cam. J Neuropathol Exp Neurol. 2022 Aug 16;81(9):746-757. doi: 10.1093/jnen/nlac063. J Neuropathol Exp Neurol. 2022. PMID: 35898174
27 results