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Page 1
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. Among authors: glaser d. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy.
Daya NM, Mavrommatis L, Zhuge H, Athamneh M, Roos A, Gläser D, Doering K, Zaehres H, Vorgerd M, Güttsches AK. Daya NM, et al. Among authors: glaser d. Stem Cell Res. 2023 Oct;72:103210. doi: 10.1016/j.scr.2023.103210. Epub 2023 Sep 21. Stem Cell Res. 2023. PMID: 37748332 Free article.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: glaser d. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Comparative effectiveness of a second TNF inhibitor versus a non-TNF biologic in the treatment of polyarticular course juvenile idiopathic arthritis.
Mannion ML, Amin S, Balevic S, Chang ML, Correll CK, Kearsley-Fleet L, Hyrich KL, Beukelman T; CARRA Registry Investigators and the UK JIA Biologics Register Investigators. Mannion ML, et al. Arthritis Care Res (Hoboken). 2024 Mar 31. doi: 10.1002/acr.25339. Online ahead of print. Arthritis Care Res (Hoboken). 2024. PMID: 38556945
Chapter 7: Assessing Habitability Beyond Earth.
Styczinski MJ, Cooper ZS, Glaser DM, Lehmer O, Mierzejewski V, Tarnas J. Styczinski MJ, et al. Among authors: glaser dm. Astrobiology. 2024 Mar;24(S1):S143-S163. doi: 10.1089/ast.2021.0097. Astrobiology. 2024. PMID: 38498826 Review.
Chapter 11: Astrobiology Education, Engagement, and Resources.
Styczinski MJ, Glaser DM, Hooks M, Jia TZ, Johnson-Finn K, Schaible GA, Schaible MJ. Styczinski MJ, et al. Among authors: glaser dm. Astrobiology. 2024 Mar;24(S1):S216-S227. doi: 10.1089/ast.2021.0098. Astrobiology. 2024. PMID: 38498823
Chapter 1: The Astrobiology Primer 3.0.
Schaible MJ, Szeinbaum N, Bozdag GO, Chou L, Grefenstette N, Colón-Santos S, Rodriguez LE, Styczinski MJ, Thweatt JL, Todd ZR, Vázquez-Salazar A, Adams A, Araújo MN, Altair T, Borges S, Burton D, Campillo-Balderas JA, Cangi EM, Caro T, Catalano E, Chen K, Conlin PL, Cooper ZS, Fisher TM, Fos SM, Garcia A, Glaser DM, Harman CE, Hermis NY, Hooks M, Johnson-Finn K, Lehmer O, Hernández-Morales R, Hughson KHG, Jácome R, Jia TZ, Marlow JJ, McKaig J, Mierzejewski V, Muñoz-Velasco I, Nural C, Oliver GC, Penev PI, Raj CG, Roche TP, Sabuda MC, Schaible GA, Sevgen S, Sinhadc P, Steller LH, Stelmach K, Tarnas J, Tavares F, Trubl G, Vidaurri M, Vincent L, Weber JM, Weng MM, Wilpiszeki RL, Young A. Schaible MJ, et al. Among authors: glaser dm. Astrobiology. 2024 Mar;24(S1):S4-S39. doi: 10.1089/ast.2021.0129. Astrobiology. 2024. PMID: 38498816 Review.
TENAYA and LUCERNE: Two-Year Results from the Phase 3 Neovascular Age-Related Macular Degeneration Trials of Faricimab with Treat-and-Extend Dosing in Year 2.
Khanani AM, Kotecha A, Chang A, Chen SJ, Chen Y, Guymer R, Heier JS, Holz FG, Iida T, Ives JA, Lim JI, Lin H, Michels S, Quezada Ruiz C, Schmidt-Erfurth U, Silverman D, Singh R, Swaminathan B, Willis JR, Tadayoni R; TENAYA and LUCERNE Investigators. Khanani AM, et al. Ophthalmology. 2024 Feb 19:S0161-6420(24)00134-9. doi: 10.1016/j.ophtha.2024.02.014. Online ahead of print. Ophthalmology. 2024. PMID: 38382813 Free article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: glaser d. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
573 results