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Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Auer-Grumbach M, Rettl R, Ablasser K, Agis H, Beetz C, Duca F, Gattermeier M, Glaser F, Hacker M, Kain R, Kaufmann B, Kovacs GG, Lampl C, Ljevakovic N, Nagele J, Pölzl G, Quasthoff S, Raimann B, Rauschka H, Reiter C, Skrahina V, Schuhfried O, Sunder-Plassmann R, Verheyen ND, Wanschitz J, Weber T, Windhager R, Wurm R, Zimprich F, Löscher WN, Bonderman D. Auer-Grumbach M, et al. Among authors: wanschitz j. J Clin Med. 2020 Jul 14;9(7):2234. doi: 10.3390/jcm9072234. J Clin Med. 2020. PMID: 32674397 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
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.
Serotonergic nuclei of the raphe are not affected in human ageing.
Klöppel S, Kovacs GG, Voigtländer T, Wanschitz J, Flicker H, Hainfellner JA, Guentchev M, Budka H. Klöppel S, et al. Among authors: wanschitz j. Neuroreport. 2001 Mar 26;12(4):669-71. doi: 10.1097/00001756-200103260-00010. Neuroreport. 2001. PMID: 11277560
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba HC, Seidl R, Albrecht G, Weirich-Schwaiger H, Zoller H, Utermann G, Auer-Grumbach M, Janecke AR. Miltenberger-Miltenyi G, et al. Among authors: wanschitz j. Eur J Hum Genet. 2009 Sep;17(9):1154-9. doi: 10.1038/ejhg.2009.29. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259128 Free PMC article.
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