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Large deletions and small insertions and deletions in the factor VIII gene predict unfavorable immune tolerance induction outcome in people with severe hemophilia A and high-responding inhibitors.
Zuccherato LW, Souza RP, Camelo RM, Dias MM, Jardim LL, Santana MAP, Oliveira AG, Lorenzato CS, Cerqueira MH, Franco VKB, Ribeiro RA, Etto LY, Roberti MDRF, Callado FMA, de Cerqueira MAF, Pinto ISS, Garcia AA, Anegawa TH, Neves DCF, Tan DM, Tou RP, Chaves DG, van der Bom J, Rezende SM; HEMFIL Study and the Brazilian Immune Tolerance (BrazIT) Study. Zuccherato LW, et al. Among authors: jardim ll. Thromb Res. 2024 Oct;242:109115. doi: 10.1016/j.thromres.2024.109115. Epub 2024 Aug 14. Thromb Res. 2024. PMID: 39186847
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ, Czisch L, Pereira Sena P, Fath F, Huridou C, Schwarz N, Incebacak Eltemur RD, Würth A, Weishäupl D, Döcker M, Blumenstock G, Martins S, Sequeiros J, Rouleau GA, Jardim LB, Saraiva-Pereira ML, França MC Jr, Gordon CR, Zaltzman R, Cornejo-Olivas MR, van de Warrenburg BPC, Durr A, Brice A, Bauer P, Klockgether T, Schöls L, Riess O; EUROSCA Network; Schmidt T. Weber JJ, et al. Among authors: jardim lb. Acta Neuropathol. 2024 Aug 1;148(1):14. doi: 10.1007/s00401-024-02762-6. Acta Neuropathol. 2024. PMID: 39088078 Free PMC article.
Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network.
Jardim LL, Schieber TA, Santana MP, Cerqueira MH, Lorenzato CS, Franco VKB, Zuccherato LW, da Silva Santos BA, Chaves DG, Ravetti MG, Rezende SM. Jardim LL, et al. J Thromb Haemost. 2024 Sep;22(9):2426-2437. doi: 10.1016/j.jtha.2024.05.017. Epub 2024 May 27. J Thromb Haemost. 2024. PMID: 38810700
Spinocerebellar ataxia type 2 has multiple ancestral origins.
Sena LS, Furtado GV, Pedroso JL, Barsottini O, Cornejo-Olivas M, Nóbrega PR, Braga Neto P, Soares DMB, Vargas FR, Godeiro C, Medeiros PFV, Camejo C, Toralles MBP, Fagundes NJR, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica. Sena LS, et al. Among authors: jardim lb. Parkinsonism Relat Disord. 2024 Mar;120:105985. doi: 10.1016/j.parkreldis.2023.105985. Epub 2023 Dec 31. Parkinsonism Relat Disord. 2024. PMID: 38181536
239 results