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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 4
2004 3
2005 4
2006 6
2007 2
2008 4
2009 3
2010 2
2011 2
2012 5
2013 5
2014 13
2015 6
2016 5
2017 3
2018 6
2019 9
2020 10
2021 11
2022 13
2023 11
2024 7

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122 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
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.
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.
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.
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.
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB. Deschauer M, et al. Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418. Brain. 2021. PMID: 33459760
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free 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. 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.
122 results