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Page 1
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. 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.
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.
Guettsches AK, Meyer N, Zahedi RP, Evangelista T, Muentefering T, Ruck T, Lacene E, Heute C, Gonczarowska-Jorge H, Schoser B, Krause S, Hentschel A, Vorgerd M, Roos A. Guettsches AK, et al. Among authors: vorgerd m. Biomedicines. 2022 Sep 30;10(10):2443. doi: 10.3390/biomedicines10102443. Biomedicines. 2022. PMID: 36289705 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.
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. Hentschel A, et al. Among authors: vorgerd m. Mol Neurobiol. 2023 May;60(5):2602-2618. doi: 10.1007/s12035-023-03219-9. Epub 2023 Jan 24. Mol Neurobiol. 2023. PMID: 36692708 Free PMC article.
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: vorgerd m. J Neurol. 2023 Jun;270(6):3138-3158. doi: 10.1007/s00415-023-11633-1. Epub 2023 Mar 9. J Neurol. 2023. PMID: 36892629
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. Hentschel A, et al. Among authors: vorgerd m. Mol Neurobiol. 2023 Jul;60(7):4164. doi: 10.1007/s12035-023-03319-6. Mol Neurobiol. 2023. PMID: 36941504 Free PMC article. No abstract available.
203 results