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2016 1
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2018 3
2019 2
2020 2
2022 2
2023 5
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16 results

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Page 1
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: noel m. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
L-Fucose treatment of FUT8-CDG.
Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T. Park JH, et al. Among authors: noel m. Mol Genet Metab Rep. 2020 Dec 5;25:100680. doi: 10.1016/j.ymgmr.2020.100680. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33312876 Free PMC article.
Vertebrate Alpha2,8-Sialyltransferases (ST8Sia): A Teleost Perspective.
Tindara Venuto M, Decloquement M, Martorell Ribera J, Noel M, Rebl A, Cogez V, Petit D, Galuska SP, Harduin-Lepers A. Tindara Venuto M, et al. Among authors: noel m. Int J Mol Sci. 2020 Jan 14;21(2):513. doi: 10.3390/ijms21020513. Int J Mol Sci. 2020. PMID: 31947579 Free PMC article.
Salmonid polysialyltransferases to generate a variety of sialic acid polymers.
Decloquement M, Venuto MT, Cogez V, Steinmetz A, Schulz C, Lion C, Noel M, Rigolot V, Teppa RE, Biot C, Rebl A, Galuska SP, Harduin-Lepers A. Decloquement M, et al. Among authors: noel m. Sci Rep. 2023 Sep 20;13(1):15610. doi: 10.1038/s41598-023-42095-0. Sci Rep. 2023. PMID: 37730806 Free PMC article.
The schizophrenia-associated variant in SLC39A8 alters protein glycosylation in the mouse brain.
Mealer RG, Williams SE, Noel M, Yang B, D'Souza AK, Nakata T, Graham DB, Creasey EA, Cetinbas M, Sadreyev RI, Scolnick EM, Woo CM, Smoller JW, Xavier RJ, Cummings RD. Mealer RG, et al. Among authors: noel m. Mol Psychiatry. 2022 Mar;27(3):1405-1415. doi: 10.1038/s41380-022-01490-1. Epub 2022 Mar 8. Mol Psychiatry. 2022. PMID: 35260802 Free PMC article.
16 results