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A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: auer r. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: auer r. Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10. Lancet Neurol. 2024. PMID: 38614108 Free article.
Andexanet for Factor Xa Inhibitor-Associated Acute Intracerebral Hemorrhage.
Connolly SJ, Sharma M, Cohen AT, Demchuk AM, Członkowska A, Lindgren AG, Molina CA, Bereczki D, Toni D, Seiffge DJ, Tanne D, Sandset EC, Tsivgoulis G, Christensen H, Beyer-Westendorf J, Coutinho JM, Crowther M, Verhamme P, Amarenco P, Roine RO, Mikulik R, Lemmens R, Veltkamp R, Middeldorp S, Robinson TG, Milling TJ Jr, Tedim-Cruz V, Lang W, Himmelmann A, Ladenvall P, Knutsson M, Ekholm E, Law A, Taylor A, Karyakina T, Xu L, Tsiplova K, Poli S, Kallmünzer B, Gumbinger C, Shoamanesh A; ANNEXA-I Investigators. Connolly SJ, et al. N Engl J Med. 2024 May 16;390(19):1745-1755. doi: 10.1056/NEJMoa2313040. N Engl J Med. 2024. PMID: 38749032 Clinical Trial.
Hepatopancreaticobiliary Resection Arginine Immunomodulation (PRIMe) trial: protocol for a randomised phase II trial of the impact of perioperative immunomodulation on immune function following resection for hepatopancreaticobiliary malignancy.
Behman R, Auer RC, Bubis L, Xu G, Coburn NG, Martel G, Hallet J, Balaa F, Law C, Bertens KA, Abou Khalil J, Karanicolas PJ. Behman R, et al. Among authors: auer rc. BMJ Open. 2024 Apr 5;14(4):e072159. doi: 10.1136/bmjopen-2023-072159. BMJ Open. 2024. PMID: 38580363 Free PMC article.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: auer rc. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
Long-term outcomes by bone marrow B-cell depletion from the R2W trial of bortezomib with cyclophosphamide and rituximab in Waldenstrőm macroglobulinaemia.
de Tute R, Counsell N, Clifton-Hadley L, D'Sa S, Pratt G, Campbell G, Campbell L, Sadler R, Townsend W, Popova B, Smith P, Schofield O, Owen R, Auer R. de Tute R, et al. Among authors: auer r. Leukemia. 2024 Apr;38(4):822-828. doi: 10.1038/s41375-024-02162-5. Epub 2024 Feb 26. Leukemia. 2024. PMID: 38409530 Clinical Trial.
Electronic Nicotine-Delivery Systems for Smoking Cessation.
Auer R, Schoeni A, Humair JP, Jacot-Sadowski I, Berlin I, Stuber MJ, Haller ML, Tango RC, Frei A, Strassmann A, Bruggmann P, Baty F, Brutsche M, Tal K, Baggio S, Jakob J, Sambiagio N, Hopf NB, Feller M, Rodondi N, Berthet A. Auer R, et al. N Engl J Med. 2024 Feb 15;390(7):601-610. doi: 10.1056/NEJMoa2308815. N Engl J Med. 2024. PMID: 38354139 Clinical Trial.
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