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Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
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.
J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600.
J Neuromuscul Dis. 2023.
PMID: 36565133
Free PMC article.
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Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual.
Steinbrücker K, Tiefenthaler E, Schernthaner EM, Jungwirth J, Wortmann SB.
Steinbrücker K, et al. Among authors: tiefenthaler e.
Neuropediatrics. 2023 Feb;54(1):78-81. doi: 10.1055/a-1959-9404. Epub 2022 Oct 12.
Neuropediatrics. 2023.
PMID: 36223879
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Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Oswald SL, Steinbrücker K, Achleitner MT, Göschl E, Bittner RE, Schmidt WM, Tiefenthaler E, Hammerl E, Eisl A, Mayr D, Mayr JA, Wortmann SB.
Oswald SL, et al. Among authors: tiefenthaler e.
Neuropediatrics. 2023 Oct;54(5):351-355. doi: 10.1055/a-2008-4230. Epub 2023 Jan 5.
Neuropediatrics. 2023.
PMID: 36603837
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