ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure-Reference-Cited by-同舟云学术

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

Published:2019-08-08 Issue:1 Volume:9 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Jarmula Adam^ORCID,Łusakowska Anna,Fichna Jakub P.,Topolewska Malgorzata,Macias Anna,Johnson Katherine,Töpf Ana,Straub Volker,Rosiak Edyta^ORCID,Szczepaniak Krzysztof,Dunin-Horkawicz Stanisław,Maruszak Aleksandra,Kaminska Anna M.,Redowicz Maria Jolanta

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-019-47849-3.pdf

Reference79 articles.

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2. Servián-Morilla, E. et al. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol. Med. 8, 1289–1309 (2016).

3. Straub, V. et al. 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. LGMD workshop study group. Neuromuscul. Disord. 28, 702–710 (2018).

4. Mitsuhashi, S. & Kang, P. B. Update on the genetics of limb girdle muscular dystrophy. Sem. Pediatric Neurol. 19, 211–218 (2012).

5. Azzimato, V., Gennebäck, N., Tabish, A. M., Buyandelger, B. & Knöll, R. Desmin, desminopathy and the complexity of genetics. J. Mol. Cell. Cardiol. 92, 93–95 (2016).

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