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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. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: specht s. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Best Practices for Microbial Challenge In-use Studies to Evaluate the Microbial Growth Potential of Parenteral Biological Products; Industry and Regulatory Considerations.
Zamiri C, Leiske DL, Hughes PF, Kirwan JP, Der E, Cox E, Warburton R, Goss M, Weiser S, Perez-Brown J, Gopalrathnam G, Liu J, Mehta SB, Shereefa S, Specht S, Aedo SJ, Goldbach P, Jia F, Kuehnle B, Page S, Voeten L, Yi L, Zhu C. Zamiri C, et al. Among authors: specht s. PDA J Pharm Sci Technol. 2023 Oct 17:pdajpst.2022.012806. doi: 10.5731/pdajpst.2022.012806. Online ahead of print. PDA J Pharm Sci Technol. 2023. PMID: 37848203
Asteatotic Eczema.
Specht S, Persaud Y. Specht S, et al. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 31747214 Free Books & Documents.
Biodegradable, Self-Reinforcing Vascular Grafts for In Situ Tissue Engineering Approaches.
Rohringer S, Grasl C, Ehrmann K, Hager P, Hahn C, Specht SJ, Walter I, Schneider KH, Zopf LM, Baudis S, Liska R, Schima H, Podesser BK, Bergmeister H. Rohringer S, et al. Among authors: specht sj. Adv Healthc Mater. 2023 Sep;12(23):e2300520. doi: 10.1002/adhm.202300520. Epub 2023 May 21. Adv Healthc Mater. 2023. PMID: 37173073
Perspective on Schistosomiasis Drug Discovery: Highlights from a Schistosomiasis Drug Discovery Workshop at Wellcome Collection, London, September 2022.
Caldwell N, Afshar R, Baragaña B, Bustinduy AL, Caffrey CR, Collins JJ, Fusco D, Garba A, Gardner M, Gomes M, Hoffmann KF, Hsieh M, Lo NC, McNamara CW, Nono JK, Padalino G, Read KD, Roestenberg M, Spangenberg T, Specht S, Gilbert IH. Caldwell N, et al. Among authors: specht s. ACS Infect Dis. 2023 May 12;9(5):1046-1055. doi: 10.1021/acsinfecdis.3c00081. Epub 2023 Apr 21. ACS Infect Dis. 2023. PMID: 37083395 Free PMC article. Review.
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Kishnani PS, et al. JAMA Neurol. 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. JAMA Neurol. 2023. PMID: 37036722 Free PMC article. Clinical Trial.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Filariasis research - from basic research to drug development and novel diagnostics, over a decade of research at the Institute for Medical Microbiology, Immunology and Parasitology, Bonn, Germany.
Karunakaran I, Ritter M, Pfarr K, Klarmann-Schulz U, Debrah AY, Debrah LB, Katawa G, Wanji S, Specht S, Adjobimey T, Hübner MP, Hoerauf A. Karunakaran I, et al. Among authors: specht s. Front Trop Dis. 2023 Mar 2;4:1126173. doi: 10.3389/fitd.2023.1126173. Front Trop Dis. 2023. PMID: 38655130 Free PMC article.
241 results