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Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Sanchez Marco SB, Buhl E, Firth R, Zhu B, Gainsborough M, Beleza-Meireles A, Moore S, Caswell R, Stals K, Ellard S, Kennedy C, Hodge JJL, Majumdar A. Sanchez Marco SB, et al. Among authors: moore s. Clin Genet. 2022 Dec;102(6):494-502. doi: 10.1111/cge.14220. Epub 2022 Sep 18. Clin Genet. 2022. PMID: 36046955
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Joyce S, Gordon K, Brice G, Ostergaard P, Nagaraja R, Short J, Moore S, Mortimer P, Mansour S. Joyce S, et al. Among authors: moore s. Eur J Hum Genet. 2016 May;24(5):690-6. doi: 10.1038/ejhg.2015.175. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242988 Free PMC article.
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.
Pickwick C, Callewaert B, van Dijk F, Harris J, Wakeling E, Hay E, Yeo M, Chakrapani A, Baptista J, Moore S, Yoong M, Chatterjee F, Ghali N. Pickwick C, et al. Among authors: moore s. Clin Dysmorphol. 2022 Apr 1;31(2):66-70. doi: 10.1097/MCD.0000000000000404. Clin Dysmorphol. 2022. PMID: 34954732 No abstract available.
Microscopic and metabolomics analysis of the anti-Listeria activity of natural and engineered cruzioseptins.
Bermúdez-Puga S, Dias M, Reis IL, Freire de Oliveira T, Yokomizo de Almeida SR, Mendes MA, Moore SJ, Almeida JR, Proaño-Bolaños C, Pinheiro de Souza Oliveira R. Bermúdez-Puga S, et al. Among authors: moore sj. Biochimie. 2024 May 30:S0300-9084(24)00124-X. doi: 10.1016/j.biochi.2024.05.022. Online ahead of print. Biochimie. 2024. PMID: 38823620
5,879 results