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252 results

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An exome-wide study of renal operational tolerance.
Massart A, Danger R, Olsen C, Emond MJ, Viklicky O, Jacquemin V, Soblet J, Duerinckx S, Croes D, Perazzolo C, Hruba P, Daneels D, Caljon B, Sever MS, Pascual J, Miglinas M; Renal Tolerance Investigators; Pirson I, Ghisdal L, Smits G, Giral M, Abramowicz D, Abramowicz M, Brouard S. Massart A, et al. Among authors: abramowicz m. Front Med (Lausanne). 2023 May 17;9:976248. doi: 10.3389/fmed.2022.976248. eCollection 2022. Front Med (Lausanne). 2023. PMID: 37265662 Free PMC article.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Becker A, Felici C, Lambert L, de Saint Martin A, Abi-Warde MT, Schaefer E, Zix C, Zamani M, Sadeghian S, Zeighami J, Seifi T, Azizimalamiri R, Shariati G, Galehdari H, Selig M, Ding C, Duerinckx S, Pirson I, Abramowicz M, Clément G, Leheup B, Jonveaux P, Lefort G, Bronner M, Renaud M, Bonnet C. Becker A, et al. Among authors: abramowicz m. Clin Genet. 2023 Mar;103(3):346-351. doi: 10.1111/cge.14264. Epub 2022 Dec 2. Clin Genet. 2023. PMID: 36371792 Free PMC article.
Novel transcriptomic signatures associated with premature kidney allograft failure.
Hruba P, Klema J, Le AV, Girmanova E, Mrazova P, Massart A, Maixnerova D, Voska L, Piredda GB, Biancone L, Puga AR, Seyahi N, Sever MS, Weekers L, Muhfeld A, Budde K, Watschinger B, Miglinas M, Zahradka I, Abramowicz M, Abramowicz D, Viklicky O. Hruba P, et al. Among authors: abramowicz m. EBioMedicine. 2023 Oct;96:104782. doi: 10.1016/j.ebiom.2023.104782. Epub 2023 Sep 1. EBioMedicine. 2023. PMID: 37660534 Free PMC article.
Variable Intrafamilial Expression of ABCB4 Disease.
Zampaglione L, Rougemont AL, Rubbia-Brandt L, Abramowicz M, Guipponi M, Marchionni E, Valerie M, Goossens N. Zampaglione L, et al. Among authors: abramowicz m. ACG Case Rep J. 2023 Aug 11;10(8):e01113. doi: 10.14309/crj.0000000000001113. eCollection 2023 Aug. ACG Case Rep J. 2023. PMID: 37575491 Free PMC article.
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases.
Al-Thani M, Goodwin-Trotman M, Bell S, Patel K, Fleming LK, Vilain C, Abramowicz M, Allan SM, Wang T, Cader MZ, Horsburgh K, Van Agtmael T, Sinha S, Markus HS, Granata A. Al-Thani M, et al. Among authors: abramowicz m. Stem Cell Reports. 2023 Dec 12;18(12):2386-2399. doi: 10.1016/j.stemcr.2023.10.014. Epub 2023 Nov 16. Stem Cell Reports. 2023. PMID: 37977146 Free PMC article.
A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers.
Marizzoni M, Mirabelli P, Mombelli E, Coppola L, Festari C, Lopizzo N, Luongo D, Mazzelli M, Naviglio D, Blouin JL, Abramowicz M, Salvatore M, Pievani M, Cattaneo A, Frisoni GB. Marizzoni M, et al. Among authors: abramowicz m. Alzheimers Res Ther. 2023 May 31;15(1):101. doi: 10.1186/s13195-023-01218-5. Alzheimers Res Ther. 2023. PMID: 37254223 Free PMC article.
252 results