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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: loscher wn. 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.
Hand amyotrophy and ventral intraspinal fluid collection.
Löscher WN, Tschugg A, Wanschitz JV, Stark RJ, Grams AE. Löscher WN, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):412-3. doi: 10.3109/21678421.2015.1025795. Epub 2015 Apr 1. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25828803 No abstract available.
Secondary myopathy due to systemic diseases.
Finsterer J, Löscher WN, Wanschitz J, Quasthoff S, Grisold W. Finsterer J, et al. Among authors: loscher wn. Acta Neurol Scand. 2016 Dec;134(6):388-402. doi: 10.1111/ane.12576. Epub 2016 Feb 25. Acta Neurol Scand. 2016. PMID: 26915593 Free PMC article. Review.
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. Among authors: loscher wn. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S. Windpassinger C, et al. Among authors: loscher wn. Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004. Am J Hum Genet. 2008. PMID: 18179888 Free PMC article.
129 results