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2002 2
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Page 1
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: terriente j. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.
Evolutionary emergence of the rac3b/rfng/sgca regulatory cluster refined mechanisms for hindbrain boundaries formation.
Letelier J, Terriente J, Belzunce I, Voltes A, Undurraga CA, Polvillo R, Devos L, Tena JJ, Maeso I, Retaux S, Gomez-Skarmeta JL, Martínez-Morales JR, Pujades C. Letelier J, et al. Among authors: terriente j. Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):E3731-E3740. doi: 10.1073/pnas.1719885115. Epub 2018 Apr 2. Proc Natl Acad Sci U S A. 2018. PMID: 29610331 Free PMC article.
23 results