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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
2000 1
2003 1
2006 1
2010 1
2011 3
2012 1
2013 2
2014 3
2015 3
2016 4
2017 2
2018 4
2019 6
2020 5
2021 9
2022 4
2023 7
2024 3

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56 results

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Page 1
1-Deoxysphingolipids.
Lone MA, Santos T, Alecu I, Silva LC, Hornemann T. Lone MA, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Apr;1864(4):512-521. doi: 10.1016/j.bbalip.2018.12.013. Epub 2019 Jan 6. Biochim Biophys Acta Mol Cell Biol Lipids. 2019. PMID: 30625374 Review.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: lone ma. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Among authors: lone ma. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824 Free PMC article.
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
Lone MA, Zeng S, Bourquin F, Wang M, Huang S, Lin Z, Tang B, Zhang R, Hornemann T. Lone MA, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Sep;1868(9):159359. doi: 10.1016/j.bbalip.2023.159359. Epub 2023 Jun 20. Biochim Biophys Acta Mol Cell Biol Lipids. 2023. PMID: 37348646
56 results