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

Year Number of Results
2003 1
2004 2
2005 1
2006 1
2007 2
2008 2
2009 1
2010 1
2011 3
2012 4
2013 5
2014 1
2015 3
2016 5
2017 3
2018 7
2019 2
2020 9
2021 5
2022 5
2023 8
2024 2

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66 results

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Page 1
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: wanschitz jv. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker.
Kleinveld VEA, Keritam O, Horlings CGC, Cetin H, Wanschitz J, Hotter A, Zirch LS, Zimprich F, Topakian R, Müller P, Oel D, Quasthoff S, Erdler M, Rauschka H, Grinzinger S, Jecel J, Gaulhofer P, Castek B, Stadler K, Löscher WN. Kleinveld VEA, et al. Among authors: wanschitz j. Muscle Nerve. 2024 Apr;69(4):422-427. doi: 10.1002/mus.28054. Epub 2024 Feb 9. Muscle Nerve. 2024. PMID: 38334356
Pain in Multiple System Atrophy a Systematic Review and Meta-Analysis.
Campese N, Caliò B, Leys F, Kaltenbach L, Göbel G, Wanschitz J, Schlager A, Zamarian L, Bannister K, Chaudhuri RK, Schrag A, Granata R, Kiechl S, Poewe W, Seppi K, Wenning G, Fanciulli A. Campese N, et al. Among authors: wanschitz j. Mov Disord Clin Pract. 2023 Oct 18;10(12):1738-1749. doi: 10.1002/mdc3.13897. eCollection 2023 Dec. Mov Disord Clin Pract. 2023. PMID: 38094640 Free PMC article. Review.
Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's ataxia.
Indelicato E, Kirchmair A, Amprosi M, Steixner S, Nachbauer W, Eigentler A, Wahl N, Apostolova G, Krogsdam A, Schneider R, Wanschitz J, Trajanoski Z, Boesch S. Indelicato E, et al. Among authors: wanschitz j. Hum Mol Genet. 2023 Jun 19;32(13):2241-2250. doi: 10.1093/hmg/ddad051. Hum Mol Genet. 2023. PMID: 37027192 Free PMC article.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. de Bruyn A, et al. Among authors: wanschitz j. Brain. 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. Brain. 2023. PMID: 36913258
66 results