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A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
Xu IRL, Danzi MC, Ruiz A, Raposo J, De Jesus YA, Reilly MM, Cortese A, Shy ME, Scherer SS, Herrmann DN, Fridman V, Baets J, Saporta M, Seyedsadjadi R, Stojkovic T, Claeys KG, Patel P, Feely S, Rebelo AP; Inherited Neuropathy Consortium; Dohrn MF, Züchner S. Xu IRL, et al. Among authors: raposo j. J Peripher Nerv Syst. 2024 Jun;29(2):202-212. doi: 10.1111/jns.12621. Epub 2024 Apr 5. J Peripher Nerv Syst. 2024. PMID: 38581130
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Camarena V, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer SS, Kennerson M, Lee YC, Foskett JK, Shy ME, Zuchner S. Beijer D, et al. Among authors: raposo j. Brain. 2025 Jan 7;148(1):227-237. doi: 10.1093/brain/awae206. Brain. 2025. PMID: 38938188
EDENT1FI Master Protocol for screening of presymptomatic early-stage type 1 diabetes in children and adolescents.
Hoffmann L, Kohls M, Arnolds S, Achenbach P, Bergholdt R, Bonifacio E, Bosi E, Gündert M, Hoefelschweiger BK, Hummel S, Jarosz-Chobot P, Kordonouri O, Lampasona V, Narendran P, Overbergh L, Pociot F, Raposo JF, Šumník Z, Szypowska A, Vercauteren J, Winkler C, Mathieu C, Ziegler AG; EDENT1FI consortium. Hoffmann L, et al. Among authors: raposo jf. BMJ Open. 2025 Jan 2;15(1):e088522. doi: 10.1136/bmjopen-2024-088522. BMJ Open. 2025. PMID: 39753267 Free PMC article.
Insights into circulating CEACAM1 in insulin clearance and disease progression: Evidence from the Portuguese PREVADIAB2 study.
Patarrão RS, Meneses MJ, Ghadieh HE, Herrera L, Duarte S, Ribeiro RT, Raposo JF, Schmitt V, Singer BB, Gastaldelli A, Penha-Gonçalves C, Najjar SM, Macedo MP. Patarrão RS, et al. Among authors: raposo jf. Eur J Clin Invest. 2024 Dec;54 Suppl 2(Suppl 2):e14344. doi: 10.1111/eci.14344. Eur J Clin Invest. 2024. PMID: 39674875 Free PMC article.
Influence of Tryptophan Metabolism on the Protective Effect of Weissella paramesenteroides WpK4 in a Murine Model of Chemotherapy-Induced Intestinal Mucositis.
Guimarães GM, Costa K, da Silva Santana Moura C, Moreira SED, Marchiori JM, de Menezes Santos ACP, Batista RRA, Queiroz-Junior CM, Raposo JDA, Braga FC, Caliari MV, Nunes ÁC, Fagundes CT, Neumann E. Guimarães GM, et al. Among authors: raposo jda. Probiotics Antimicrob Proteins. 2024 Nov 27. doi: 10.1007/s12602-024-10413-1. Online ahead of print. Probiotics Antimicrob Proteins. 2024. PMID: 39602009
The Ex-Timing trial: evaluating morning, afternoon, and evening exercise on the circadian clock in individuals with type 2 diabetes and overweight/obesity-a randomized crossover study protocol.
Magalhães JP, Oliveira EC, Hetherington-Rauth M, Jesus F, Rodrigues MC, Raposo JF, Ribeiro RT, Caetano C, Sardinha LB. Magalhães JP, et al. Among authors: raposo jf. Trials. 2024 Aug 6;25(1):526. doi: 10.1186/s13063-024-08335-y. Trials. 2024. PMID: 39107793 Free PMC article.
184 results