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Year Number of Results
1995 1
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1998 1
1999 2
2000 1
2001 7
2003 1
2004 4
2005 1
2006 2
2007 2
2008 2
2009 1
2010 1
2011 4
2012 4
2013 6
2014 1
2015 4
2016 7
2017 6
2018 8
2019 2
2020 9
2021 5
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2023 8
2024 7

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96 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.
Howard JF Jr, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Muppidi S, Nowak RJ, O'Brien F, Wang JJ, Mantegazza R; REGAIN Study Group. Howard JF Jr, et al. Lancet Neurol. 2017 Dec;16(12):976-986. doi: 10.1016/S1474-4422(17)30369-1. Epub 2017 Oct 20. Lancet Neurol. 2017. PMID: 29066163 Clinical Trial.
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. Among authors: wanschitz j. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Among authors: wanschitz j. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
Safety, tolerability, and efficacy of subcutaneous efgartigimod in patients with chronic inflammatory demyelinating polyradiculoneuropathy (ADHERE): a multicentre, randomised-withdrawal, double-blind, placebo-controlled, phase 2 trial.
Allen JA, Lin J, Basta I, Dysgaard T, Eggers C, Guptill JT, Gwathmey KG, Hewamadduma C, Hofman E, Hussain YM, Kuwabara S, Le Masson G, Leypoldt F, Chang T, Lipowska M, Lowe M, Lauria G, Querol L, Simu MA, Suresh N, Tse A, Ulrichts P, Van Hoorick B, Yamasaki R, Lewis RA, van Doorn PA; ADHERE Study Group. Allen JA, et al. Lancet Neurol. 2024 Oct;23(10):1013-1024. doi: 10.1016/S1474-4422(24)00309-0. Lancet Neurol. 2024. PMID: 39304241 Clinical Trial.
Hereditary transthyretin-related amyloidosis.
Finsterer J, Iglseder S, Wanschitz J, Topakian R, Löscher WN, Grisold W. Finsterer J, et al. Among authors: wanschitz j. Acta Neurol Scand. 2019 Feb;139(2):92-105. doi: 10.1111/ane.13035. Epub 2018 Oct 23. Acta Neurol Scand. 2019. PMID: 30295933
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.
Skeletal Muscle Involvement in Friedreich Ataxia.
Indelicato E, Wanschitz J, Löscher W, Boesch S. Indelicato E, et al. Among authors: wanschitz j. Int J Mol Sci. 2024 Sep 13;25(18):9915. doi: 10.3390/ijms25189915. Int J Mol Sci. 2024. PMID: 39337401 Free PMC article. Review.
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.
Iatrogenic lesions of peripheral nerves.
Löscher WN, Wanschitz J, Iglseder S, Vass A, Grinzinger S, Pöschl P, Grisold W, Ninkovic M, Antoniadis G, Pedro MT, König R, Quasthoff S, Oder W, Finsterer J. Löscher WN, et al. Among authors: wanschitz j. Acta Neurol Scand. 2015 Nov;132(5):291-303. doi: 10.1111/ane.12407. Epub 2015 Apr 16. Acta Neurol Scand. 2015. PMID: 25882317 Review.
96 results