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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S. Masingue M, et al. Among authors: fontaine b. Sci Rep. 2023 Aug 28;13(1):14054. doi: 10.1038/s41598-023-41008-5. Sci Rep. 2023. PMID: 37640745 Free PMC article.
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy.
Fayssoil A, Mansencal N, Nguyen LS, Nardi O, Yaou RB, Leturcq F, Amthor H, Wahbi K, Becane HM, Lofaso F, Prigent H, Bassez G, Behin A, Stojkovic T, Fontaine B, Duboc D, Dubourg O, Clair B, Laforet P, Annane D, Orlikowski D. Fayssoil A, et al. Among authors: fontaine b. J Am Heart Assoc. 2023 Aug 15;12(16):e027231. doi: 10.1161/JAHA.122.027231. Epub 2023 Aug 10. J Am Heart Assoc. 2023. PMID: 37581390 Free PMC article. Clinical Trial.
Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation Stimuli.
Fransson J, Bachelin C, Ichou F, Guillot-Noël L, Ponnaiah M, Gloaguen A, Maillart E, Stankoff B, Tenenhaus A, Fontaine B, Mochel F, Louapre C, Zujovic V. Fransson J, et al. Among authors: fontaine b. Neurol Neuroimmunol Neuroinflamm. 2024 Nov;11(6):e200312. doi: 10.1212/NXI.0000000000200312. Epub 2024 Oct 28. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 39467238 Free PMC article.
Enhancement of Thermoelectric Performance through Transport Properties Decorrelation in the Quaternary Pseudo-Hollandite Chalcogenide Rb0.2Ba0.4Cr5Se8.
Bouteiller H, Fontaine B, Perez O, Hébert S, Bourgès C, Matsushita Y, Mori T, Gascoin F, Halet JF, Berthebaud D. Bouteiller H, et al. Among authors: fontaine b. Inorg Chem. 2024 Sep 9;63(36):16655-16666. doi: 10.1021/acs.inorgchem.4c01867. Epub 2024 Aug 27. Inorg Chem. 2024. PMID: 39189684 Free article.
Genomic Discovery and Structure-Activity Exploration of a Novel Family of Enzyme-Activated Covalent Cyclin-Dependent Kinase Inhibitors.
Davison JR, Hadjithomas M, Romeril SP, Choi YJ, Bentley KW, Biggins JB, Chacko N, Castaldi MP, Chan LK, Cumming JN, Downes TD, Eisenhauer EL, Fei F, Fontaine BM, Endalur Gopinarayanan V, Gurnani S, Hecht A, Hosford CJ, Ibrahim A, Jagels A, Joubran C, Kim JN, Lisher JP, Liu DD, Lyles JT, Mannara MN, Murray GJ, Musial E, Niu M, Olivares-Amaya R, Percuoco M, Saalau S, Sharpe K, Sheahan AV, Thevakumaran N, Thompson JE, Thompson DA, Wiest A, Wyka SA, Yano J, Verdine GL. Davison JR, et al. Among authors: fontaine bm. J Med Chem. 2024 Aug 8;67(15):13147-13173. doi: 10.1021/acs.jmedchem.4c01095. Epub 2024 Jul 30. J Med Chem. 2024. PMID: 39078366 Free PMC article.
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms.
Lincoln MR, Connally N, Axisa PP, Gasperi C, Mitrovic M, van Heel D, Wijmenga C, Withoff S, Jonkers IH, Padyukov L; International Multiple Sclerosis Genetics Consortium; Rich SS, Graham RR, Gaffney PM, Langefeld CD, Vyse TJ, Hafler DA, Chun S, Sunyaev SR, Cotsapas C. Lincoln MR, et al. Nat Genet. 2024 May;56(5):838-845. doi: 10.1038/s41588-024-01732-8. Epub 2024 May 13. Nat Genet. 2024. PMID: 38741015
Mediation of Age and Thrombectomy Outcome by Neuroimaging Markers of Frailty in Patients With Stroke.
Benali F, Singh N, Fladt J, Jaroenngarmsamer T, Bala F, Ospel JM, Buck BH, Dowlatshahi D, Field TS, Hanel RA, Peeling L, Tymianski M, Hill MD, Goyal M, Ganesh A; ESCAPE-NA1 Investigators. Benali F, et al. JAMA Netw Open. 2024 Jan 2;7(1):e2349628. doi: 10.1001/jamanetworkopen.2023.49628. JAMA Netw Open. 2024. PMID: 38165676 Free PMC article. Clinical Trial.
479 results