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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: lochmuller h. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC article.
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: lochmuller h. 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.
Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.
Landfeldt E, Abner S, Pechmann A, Sejersen T, McMillan HJ, Lochmüller H, Kirschner J. Landfeldt E, et al. Among authors: lochmuller h. Pharmacoeconomics. 2023 Mar;41(3):275-293. doi: 10.1007/s40273-022-01197-9. Epub 2022 Dec 14. Pharmacoeconomics. 2023. PMID: 36515815
Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy.
Danko V, Jüngert J, Schuessler S, Buehler A, Klett D, Federle A, Roos A, Lochmüller H, Neurath MF, Woelfle J, Trollmann R, Waldner MJ, Knieling F, Regensburger AP, Wagner AL. Danko V, et al. Among authors: lochmuller h. J Neuroimaging. 2023 May-Jun;33(3):393-403. doi: 10.1111/jon.13081. Epub 2023 Jan 10. J Neuroimaging. 2023. PMID: 36627228
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022.
Walter MC, Laforêt P, van der Pol WL, Pegoraro E; 254th ENMC Workshop Study Group. Walter MC, et al. Neuromuscul Disord. 2023 Jun;33(6):511-522. doi: 10.1016/j.nmd.2023.03.011. Epub 2023 Mar 29. Neuromuscul Disord. 2023. PMID: 37245491 No abstract available.
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Karimzadeh P, Najmabadi H, Lochmuller H, Babaee M, Dehdahsi S, Miryounesi M, Amirsalari S, Rayegani SM, Tonekaboni SH. Karimzadeh P, et al. Among authors: lochmuller h. Neuromuscul Disord. 2022 Oct;32(10):806-810. doi: 10.1016/j.nmd.2022.08.002. Epub 2022 Aug 6. Neuromuscul Disord. 2022. PMID: 36309462 Review.
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.
Nguyen CDL, Jimenez-Moreno AC, Merker M, Bowers CJ, Nikolenko N, Hentschel A, Müntefering T, Isham A, Ruck T, Vorgerd M, Dobelmann V, Gourdon G, Schara-Schmidt U, Gangfuss A, Schröder C, Sickmann A, Gross C, Gorman G, Stenzel W, Kollipara L, Hathazi D, Spendiff S, Gagnon C, Preusse C, Duchesne E, Lochmüller H, Roos A. Nguyen CDL, et al. Among authors: lochmuller h. J Neurol. 2023 Jun;270(6):3138-3158. doi: 10.1007/s00415-023-11633-1. Epub 2023 Mar 9. J Neurol. 2023. PMID: 36892629
Emerging and established biomarkers of oculopharyngeal muscular dystrophy.
Smith IC, Chakraborty S, Bourque PR, Sampaio ML, Melkus G, Lochmüller H, Woulfe J, Parks RJ, Brais B, Warman-Chardon J. Smith IC, et al. Among authors: lochmuller h. Neuromuscul Disord. 2023 Nov;33(11):824-834. doi: 10.1016/j.nmd.2023.09.010. Epub 2023 Oct 6. Neuromuscul Disord. 2023. PMID: 37926637 Review.
670 results