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Patient preferences in genetic newborn screening for rare diseases: study protocol.
Martin S, Angolini E, Audi J, Bertini DE, Bruno LP, Coulter J, Ferlini A, Fortunato F, Frankova V, Garnier N, Grauman Å, Gross E, Hauber B, Hansson M, Kirschner J, Knieling F, Kyosovksa G, Ottombrino S, Novelli A, Raming R, Sansen S, Saier C, Veldwijk J. Martin S, et al. Among authors: kirschner j. BMJ Open. 2024 Apr 19;14(4):e081835. doi: 10.1136/bmjopen-2023-081835. BMJ Open. 2024. PMID: 38643010 Free PMC article.
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: kirschner j. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.
McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E, Irwin J, Kirschner J, Moeschen P, Muntoni F, Ouillade MC, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A. McCormack P, et al. Among authors: kirschner j. PLoS Curr. 2013 Jan 10;5:ecurrents.md.f90b49429fa814bd26c5b22b13d773ec. doi: 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec. PLoS Curr. 2013. PMID: 23330068 Free PMC article.
Diagnosis and New Treatment Avenues in Spinal Muscular Atrophy.
Pechmann A, Kirschner J. Pechmann A, et al. Among authors: kirschner j. Neuropediatrics. 2017 Aug;48(4):273-281. doi: 10.1055/s-0037-1603517. Epub 2017 Jun 1. Neuropediatrics. 2017. PMID: 28571100 Review. No abstract available.
503 results