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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: ziegler a. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Among authors: ziegler a. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE Study Group. Pechmann A, et al. Among authors: ziegler a. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC 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: ziegler a. 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.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B; EuroEPINOMICS-RES Dravet working group; Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, Smal N, Spodenkiewicz M, Toelle SP, Van Gassen K, Van Paesschen W, Verbeek N, Ziegler A, Zweier M, Horn AHC, Sticht H, Lerche H, Weckhuysen S, Strauß O, Rauch A. Yang F, et al. Among authors: ziegler a. Am J Hum Genet. 2024 May 10:S0002-9297(24)00129-0. doi: 10.1016/j.ajhg.2024.04.014. Online ahead of print. Am J Hum Genet. 2024. PMID: 38744284 Free article.
2,011 results