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Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. Among authors: trollmann r. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
[Expert recommendations for magnetic resonance imaging of muscle disorders].
Zeng R, Schlaeger S, Türk M, Baum T, Deschauer M, Janka R, Karampinos D, Kassubek J, Keller-Yamamura S, Kornblum C, Lehmann H, Lichtenstein T, Nagel AM, Reimann J, Rosenbohm A, Schlaffke L, Schmidt M, Schneider-Gold C, Schoser B, Trollmann R, Vorgerd M, Weber MA, Kirschke JS, Schmidt J. Zeng R, et al. Among authors: trollmann r. Nervenarzt. 2024 Apr 29. doi: 10.1007/s00115-024-01673-x. Online ahead of print. Nervenarzt. 2024. PMID: 38683354 Review. German.
[Expert recommendations for magnetic resonance imaging of muscle disorders].
Zeng R, Schlaeger S, Türk M, Baum T, Deschauer M, Janka R, Karampinos D, Kassubek J, Keller-Yamamura S, Kornblum C, Lehmann H, Lichtenstein T, Nagel AM, Reimann J, Rosenbohm A, Schlaffke L, Schmidt M, Schneider-Gold C, Schoser B, Trollmann R, Vorgerd M, Weber MA, Kirschke JS, Schmidt J. Zeng R, et al. Among authors: trollmann r. Radiologie (Heidelb). 2024 Apr 19. doi: 10.1007/s00117-024-01276-2. Online ahead of print. Radiologie (Heidelb). 2024. PMID: 38639916 Review. German.
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: trollmann r. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Monitoring spinal muscular atrophy with three-dimensional optoacoustic imaging.
Nedoschill E, Wagner AL, Danko V, Buehler A, Raming R, Jüngert J, Neurath MF, Waldner MJ, Rother U, Woelfle J, Trollmann R, Knieling F, Regensburger AP. Nedoschill E, et al. Among authors: trollmann r. Med. 2024 Mar 18:S2666-6340(24)00082-5. doi: 10.1016/j.medj.2024.02.010. Online ahead of print. Med. 2024. PMID: 38531362 Free article.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Vill K, Tacke M, König A, Baumann M, Baumgartner M, Steinbach M, Bernert G, Blaschek A, Deschauer M, Flotats-Bastardas M, Friese J, Goldbach S, Gross M, Günther R, Hahn A, Hagenacker T, Hauser E, Horber V, Illsinger S, Johannsen J, Kamm C, Koch JC, Koelbel H, Koehler C, Kolzter K, Lochmüller H, Ludolph A, Mensch A, Meyer Zu Hoerste G, Mueller M, Mueller-Felber W, Neuwirth C, Petri S, Probst-Schendzielorz K, Pühringer M, Steinbach R, Schara-Schmidt U, Schimmel M, Schrank B, Schwartz O, Schlachter K, Schwerin-Nagel A, Schreiber G, Smitka M, Topakian R, Trollmann R, Tuerk M, Theophil M, Rauscher C, Vorgerd M, Walter MC, Weiler M, Weiss C, Wilichowski E, Wurster CD, Wunderlich G, Zeller D, Ziegler A, Kirschner J, Pechmann A; SMArtCARE study group. Vill K, et al. Among authors: trollmann r. J Neurol. 2024 May;271(5):2787-2797. doi: 10.1007/s00415-024-12188-5. Epub 2024 Feb 27. J Neurol. 2024. PMID: 38409538 Free PMC article.
Different pain phenotypes are associated with anti-Caspr2 autoantibodies.
Greguletz P, Plötz M, Baade-Büttner C, Bien CG, Eisenhut K, Geis C, Handreka R, Klausewitz J, Körtvelyessy P, Kovac S, Kraft A, Lewerenz J, Malter M, Nagel M, von Podewils F, Prüß H, Rada A, Rau J, Rauer S, Rößling R, Seifert-Held T, Siebenbrodt K, Sühs KW, Tauber SC, Thaler F, Wagner J, Wickel J, Leypoldt F, Rittner HL, Sommer C, Villmann C, Doppler K; GENERATE study group. Greguletz P, et al. J Neurol. 2024 May;271(5):2736-2744. doi: 10.1007/s00415-024-12224-4. Epub 2024 Feb 22. J Neurol. 2024. PMID: 38386048 Free PMC article.
Hybrid ultrasound and single wavelength optoacoustic imaging reveals muscle degeneration in peripheral artery disease.
Träger AP, Günther JS, Raming R, Paulus LP, Lang W, Meyer A, Kempf J, Caranovic M, Li Y, Wagner AL, Tan L, Danko V, Trollmann R, Woelfle J, Klett D, Neurath MF, Regensburger AP, Eckstein M, Uter W, Uder M, Herrmann Y, Waldner MJ, Knieling F, Rother U. Träger AP, et al. Among authors: trollmann r. Photoacoustics. 2023 Dec 2;35:100579. doi: 10.1016/j.pacs.2023.100579. eCollection 2024 Feb. Photoacoustics. 2023. PMID: 38312805 Free PMC article.
159 results