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Safety, pharmacokinetics and target engagement of novel RIPK1 inhibitor SAR443060 (DNL747) for neurodegenerative disorders: Randomized, placebo-controlled, double-blind phase I/Ib studies in healthy subjects and patients.
Vissers MFJM, Heuberger JAAC, Groeneveld GJ, Oude Nijhuis J, De Deyn PP, Hadi S, Harris J, Tsai RM, Cruz-Herranz A, Huang F, Tong V, Erickson R, Zhu Y, Scearce-Levie K, Hsiao-Nakamoto J, Tang X, Chang M, Fox BM, Estrada AA, Pomponio RJ, Alonso-Alonso M, Zilberstein M, Atassi N, Troyer MD, Ho C. Vissers MFJM, et al. Among authors: pomponio rj. Clin Transl Sci. 2022 Aug;15(8):2010-2023. doi: 10.1111/cts.13317. Epub 2022 Jun 1. Clin Transl Sci. 2022. PMID: 35649245 Free PMC article. Clinical Trial.
Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Wolf P, Alcalay RN, Liong C, Cullen E, Pauciulo MW, Nichols WC, Gan-Or Z, Chung WK, Faulkner T, Bentis C, Pomponio RJ, Ma X, Kate Zhang X, Keutzer JM, Oliva P. Wolf P, et al. Among authors: pomponio rj. Mol Genet Metab. 2018 Feb;123(2):135-139. doi: 10.1016/j.ymgme.2017.10.011. Epub 2017 Oct 23. Mol Genet Metab. 2018. PMID: 29100779 Free PMC article.
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT, Palmer RE, So KS, Oba-Shinjo SM, Zhang M, Richards B, Madhiwalla ST, Finn PF, Hasegawa A, Ciociola KM, Pescatori M, McVie-Wylie AJ, Mattaliano RJ, Madden SL, Marie SK, Klinger KW, Pomponio RJ. Palermo AT, et al. Among authors: pomponio rj. Mol Genet Metab. 2012 Jul;106(3):287-300. doi: 10.1016/j.ymgme.2012.05.004. Epub 2012 May 14. Mol Genet Metab. 2012. PMID: 22658377
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK. Oba-Shinjo SM, et al. Among authors: pomponio rj. J Neurol. 2009 Nov;256(11):1881-90. doi: 10.1007/s00415-009-5219-y. Epub 2009 Jul 9. J Neurol. 2009. PMID: 19588081
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ. Kroos MA, et al. Among authors: pomponio rj. Eur J Hum Genet. 2008 Aug;16(8):875-9. doi: 10.1038/ejhg.2008.34. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301443
35 results