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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.
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.
Parkinson's disease therapy: what lies ahead?
Wolff A, Schumacher NU, Pürner D, Machetanz G, Demleitner AF, Feneberg E, Hagemeier M, Lingor P. Wolff A, et al. Among authors: machetanz g. J Neural Transm (Vienna). 2023 Jun;130(6):793-820. doi: 10.1007/s00702-023-02641-6. Epub 2023 May 5. J Neural Transm (Vienna). 2023. PMID: 37147404 Free PMC article. Review.
CSF NFL in a Longitudinally Assessed PD Cohort: Age Effects and Cognitive Trajectories.
Lerche S, Wurster I, Röben B, Zimmermann M, Machetanz G, Wiethoff S, Dehnert M, Rietschel L, Riebenbauer B, Deuschle C, Stransky E, Lieplt-Scarfone I, Gasser T, Brockmann K. Lerche S, et al. Among authors: machetanz g. Mov Disord. 2020 Jul;35(7):1138-1144. doi: 10.1002/mds.28056. Epub 2020 May 23. Mov Disord. 2020. PMID: 32445500
The Therapeutic Potential of Metformin in Neurodegenerative Diseases.
Rotermund C, Machetanz G, Fitzgerald JC. Rotermund C, et al. Among authors: machetanz g. Front Endocrinol (Lausanne). 2018 Jul 19;9:400. doi: 10.3389/fendo.2018.00400. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 30072954 Free PMC article. Review.
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J. Schormair B, et al. Among authors: machetanz g. Clin Genet. 2018 Mar;93(3):603-612. doi: 10.1111/cge.13124. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 28862745
The Progressive Supranuclear Palsy Clinical Deficits Scale.
Piot I, Schweyer K, Respondek G, Stamelou M; DescribePSP study group; ProPSP study group; MDS-endorsed PSP study group; Sckopke P, Schenk T, Goetz CG, Stebbins GT, Höglinger GU. Piot I, et al. Mov Disord. 2020 Apr;35(4):650-661. doi: 10.1002/mds.27964. Epub 2020 Jan 17. Mov Disord. 2020. PMID: 31951049
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