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Year Number of Results
2003 1
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2008 1
2009 1
2011 1
2012 4
2013 1
2014 1
2015 1
2016 1
2019 1
2020 2
2021 2
2022 3
2023 4
2024 3

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Page 1
Disorders of purine biosynthesis metabolism.
Dewulf JP, Marie S, Nassogne MC. Dewulf JP, et al. Among authors: marie s. Mol Genet Metab. 2022 Jul;136(3):190-198. doi: 10.1016/j.ymgme.2021.12.016. Epub 2021 Dec 30. Mol Genet Metab. 2022. PMID: 34998670 Review.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Boemer F, Caberg JH, Beckers P, Dideberg V, di Fiore S, Bours V, Marie S, Dewulf J, Marcelis L, Deconinck N, Daron A, Blasco-Perez L, Tizzano E, Hiligsmann M, Lombet J, Pereira T, Lopez-Granados L, Shalchian-Tehran S, van Assche V, Willems A, Huybrechts S, Mast B, van Olden R, Dangouloff T, Servais L. Boemer F, et al. Among authors: marie s. Sci Rep. 2021 Oct 7;11(1):19922. doi: 10.1038/s41598-021-99496-2. Sci Rep. 2021. PMID: 34620959 Free PMC article.
Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.
Demaret T, Roumain M, Ambroise J, Evraerts J, Ravau J, Bouzin C, Bearzatto B, Gala JL, Stepman H, Marie S, Vincent MF, Muccioli GG, Najimi M, Sokal EM. Demaret T, et al. Among authors: marie s. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165900. doi: 10.1016/j.bbadis.2020.165900. Epub 2020 Jul 18. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32693164 Free article.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, R… See abstract for full author list ➔ Marquardt G, et al. Among authors: marie s. Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16. Genet Med. 2012. PMID: 22766634 Free article.
Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.
Janssens V, Gaide Chevronnay HP, Marie S, Vincent MF, Van Der Smissen P, Nevo N, Vainio S, Nielsen R, Christensen EI, Jouret F, Antignac C, Pierreux CE, Courtoy PJ. Janssens V, et al. Among authors: marie s. J Am Soc Nephrol. 2019 Nov;30(11):2177-2190. doi: 10.1681/ASN.2019040371. Epub 2019 Sep 23. J Am Soc Nephrol. 2019. PMID: 31548351 Free PMC article.
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.
Rzem R, Achouri Y, Marbaix E, Schakman O, Wiame E, Marie S, Gailly P, Vincent MF, Veiga-da-Cunha M, Van Schaftingen E. Rzem R, et al. Among authors: marie s. PLoS One. 2015 Mar 12;10(3):e0119540. doi: 10.1371/journal.pone.0119540. eCollection 2015. PLoS One. 2015. PMID: 25763823 Free PMC article.
23 results