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Year Number of Results
1997 1
1998 1
1999 2
2000 2
2001 3
2002 3
2003 6
2004 6
2005 6
2006 12
2007 7
2008 7
2009 7
2010 4
2011 4
2012 6
2013 10
2014 14
2015 7
2016 5
2017 4
2018 6
2019 10
2020 12
2021 11
2022 11
2023 8
2024 4

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160 results

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Page 1
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Among authors: deschauer m. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study.
Hagenacker T, Wurster CD, Günther R, Schreiber-Katz O, Osmanovic A, Petri S, Weiler M, Ziegler A, Kuttler J, Koch JC, Schneider I, Wunderlich G, Schloss N, Lehmann HC, Cordts I, Deschauer M, Lingor P, Kamm C, Stolte B, Pietruck L, Totzeck A, Kizina K, Mönninghoff C, von Velsen O, Ose C, Reichmann H, Forsting M, Pechmann A, Kirschner J, Ludolph AC, Hermann A, Kleinschnitz C. Hagenacker T, et al. Among authors: deschauer m. Lancet Neurol. 2020 Apr;19(4):317-325. doi: 10.1016/S1474-4422(20)30037-5. Epub 2020 Mar 18. Lancet Neurol. 2020. PMID: 32199097
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP, Boros M, Freischmidt A, Brenner D, Grozdanov V, de Meirelles J, Meyer T, Grehl T, Petri S, Grosskreutz J, Weyen U, Guenther R, Regensburger M, Hagenacker T, Koch JC, Emmer A, Roediger A, Steinbach R, Wolf J, Weishaupt JH, Lingor P, Deschauer M, Cordts I, Klopstock T, Reilich P, Schoeberl F, Schrank B, Zeller D, Hermann A, Knehr A, Günther K, Dorst J, Schuster J, Siebert R, Ludolph AC, Müller K. Ruf WP, et al. Among authors: deschauer m. Brain Commun. 2023 May 9;5(3):fcad152. doi: 10.1093/braincomms/fcad152. eCollection 2023. Brain Commun. 2023. PMID: 37223130 Free PMC article.
FGF-21 as a Potential Biomarker for Mitochondrial Diseases.
Scholle LM, Lehmann D, Deschauer M, Kraya T, Zierz S. Scholle LM, et al. Among authors: deschauer m. Curr Med Chem. 2018;25(18):2070-2081. doi: 10.2174/0929867325666180111094336. Curr Med Chem. 2018. PMID: 29332568 Review.
Characterization of cognitive impairment in adult polyglucosan body disease.
Zebhauser PT, Cordts I, Hengel H, Haslinger B, Lingor P, Akman HO, Haack TB, Deschauer M. Zebhauser PT, et al. Among authors: deschauer m. J Neurol. 2022 Jun;269(6):2854-2861. doi: 10.1007/s00415-022-10960-z. Epub 2022 Jan 8. J Neurol. 2022. PMID: 34999962 Free PMC article. Review.
Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.
Heinrich F, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Radelfahr F, Schönfelder E, Gardt P, Mohajer-Peseschkian T, Osmanovic A, Klopstock T, Dorst J, Ludolph AC, Schöffski O, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O. Heinrich F, et al. Among authors: deschauer m. J Neurol. 2023 Oct;270(10):4922-4938. doi: 10.1007/s00415-023-11811-1. Epub 2023 Jun 25. J Neurol. 2023. PMID: 37356024 Free PMC article.
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Erdmann H, Schöberl F, Giurgiu M, Leal Silva RM, Scholz V, Scharf F, Wendlandt M, Kleinle S, Deschauer M, Nübling G, Heide W, Babacan SS, Schneider C, Neuhann T, Hahn K, Schoser B, Holinski-Feder E, Wolf DA, Abicht A. Erdmann H, et al. Among authors: deschauer m. Brain. 2023 May 2;146(5):1831-1843. doi: 10.1093/brain/awac377. Brain. 2023. PMID: 36227727
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Günther R, Wurster CD, Brakemeier S, Osmanovic A, Schreiber-Katz O, Petri S, Uzelac Z, Hiebeler M, Thiele S, Walter MC, Weiler M, Kessler T, Freigang M, Lapp HS, Cordts I, Lingor P, Deschauer M, Hahn A, Martakis K, Steinbach R, Ilse B, Rödiger A, Bellut J, Nentwich J, Zeller D, Muhandes MT, Baum T, Christoph Koch J, Schrank B, Fischer S, Hermann A, Kamm C, Naegel S, Mensch A, Weber M, Neuwirth C, Lehmann HC, Wunderlich G, Stadler C, Tomforde M, George A, Groß M, Pechmann A, Kirschner J, Türk M, Schimmel M, Bernert G, Martin P, Rauscher C, Meyer Zu Hörste G, Baum P, Löscher W, Flotats-Bastardas M, Köhler C, Probst-Schendzielorz K, Goldbach S, Schara-Schmidt U, Müller-Felber W, Lochmüller H, von Velsen O; SMArtCARE Study Group; Kleinschnitz C, Ludolph AC, Hagenacker T. Günther R, et al. Among authors: deschauer m. Lancet Reg Health Eur. 2024 Feb 6;39:100862. doi: 10.1016/j.lanepe.2024.100862. eCollection 2024 Apr. Lancet Reg Health Eur. 2024. PMID: 38361750 Free PMC article.
Energetic depression caused by mitochondrial dysfunction.
Gellerich FN, Trumbeckaite S, Müller T, Deschauer M, Chen Y, Gizatullina Z, Zierz S. Gellerich FN, et al. Among authors: deschauer m. Mol Cell Biochem. 2004 Jan-Feb;256-257(1-2):391-405. doi: 10.1023/b:mcbi.0000009885.34498.e6. Mol Cell Biochem. 2004. PMID: 14977198 Review.
Genetics of carnitine palmitoyltransferase II deficiencies.
Wieser T, Deschauer M, Zierz S. Wieser T, et al. Among authors: deschauer m. Adv Exp Med Biol. 1999;466:339-45. doi: 10.1007/0-306-46818-2_39. Adv Exp Med Biol. 1999. PMID: 10709661 Review. No abstract available.
160 results