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Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease.
Hollak CE, Aerts JM, Belmatoug N, Bembi B, Bodamer O, Cappellini D, Collin-Histed T, Cox TM, Deegan P, Giraldo P, Hughes D, Lukina E, Manuel J, Michelakakis H, Di Rocco M, Vellodi A, Zimran A. Hollak CE, et al. Among authors: manuel j. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):86-7. doi: 10.1016/j.bcmd.2009.12.002. Blood Cells Mol Dis. 2010. PMID: 20022271 No abstract available.
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
Hollak CE, vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, Collin-Histed T, Deegan P, van Dussen L, Giraldo P, Mengel E, Michelakakis H, Manuel J, Hrebicek M, Parini R, Reinke J, di Rocco M, Pocovi M, Sa Miranda MC, Tylki-Szymanska A, Zimran A, Cox TM. Hollak CE, et al. Among authors: manuel j. Blood Cells Mol Dis. 2010 Jan 15;44(1):41-7. doi: 10.1016/j.bcmd.2009.09.006. Epub 2009 Oct 4. Blood Cells Mol Dis. 2010. PMID: 19804996
The legal imperative for treating rare disorders.
Hyry HI, Roos JC, Manuel J, Cox TM. Hyry HI, et al. Among authors: manuel j. Orphanet J Rare Dis. 2013 Sep 6;8:135. doi: 10.1186/1750-1172-8-135. Orphanet J Rare Dis. 2013. PMID: 24010951 Free PMC article.
Compassionate use of orphan drugs.
Hyry HI, Manuel J, Cox TM, Roos JC. Hyry HI, et al. Among authors: manuel j. Orphanet J Rare Dis. 2015 Aug 21;10:100. doi: 10.1186/s13023-015-0306-x. Orphanet J Rare Dis. 2015. PMID: 26292942 Free PMC article.
Generation and Characterization of a Knockout Mouse of an Enhancer of EBF3.
Hurtado EC, Wotton JM, Gulka A, Burke C, Ng JK, Bah I, Manuel J, Heins H, Murray SA, Gorkin DU, White JK, Peterson KA, Turner TN. Hurtado EC, et al. Among authors: manuel j. bioRxiv [Preprint]. 2025 Jan 10:2025.01.09.631762. doi: 10.1101/2025.01.09.631762. bioRxiv. 2025. PMID: 39829799 Free PMC article. Preprint.
Coordinated neuron-specific splicing events restrict nucleosome engagement of the LSD1 histone demethylase complex.
Porter RS, An S, Gavilan MC, Nagai M, Murata-Nakamura Y, Zhou B, Bonefas KM, Dionne O, Manuel JM, St-Germain J, Gascon S, Kim J, Browning L, Laurent B, Cho US, Iwase S. Porter RS, et al. Among authors: manuel jm. Cell Rep. 2025 Jan 15;44(1):115213. doi: 10.1016/j.celrep.2024.115213. Online ahead of print. Cell Rep. 2025. PMID: 39817906 Free article.
387 results