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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. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 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. Among authors: moreno cam. Clin Genet. 2024 Sep;106(3):305-314. doi: 10.1111/cge.14538. Epub 2024 May 15. 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. Update in: BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1 PMID: 38196621 Free PMC article. Updated. 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. Update in: BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1 PMID: 37873269 Free PMC article. Updated. 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.
30 results