The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis-Reference-Cited by-同舟云学术

The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis

Published:2016-11-14 Issue:1-2 Volume:11 Page:1600007
ISSN:1862-8346
Container-title:PROTEOMICS - Clinical Applications
language:en
Short-container-title:Prot. Clin. Appl.

Author:

Brauers Eva¹,Roos Andreas¹²,Kollipara Laxmikanth²,Zahedi René P.²,Beckmann Alf³,Mohanadas Nilane¹,Bauer Hartmut⁴,Häusler Martin⁵,Thoma Stéphanie⁶,Kress Wolfram⁷,Senderek Jan⁸,Weis Joachim¹

Affiliation:

1. Institute of Neuropathology; RWTH Aachen University Hospital; Aachen Germany

2. Leibniz-Institut für Analytische Wissenschaften - ISAS e.V; Dortmund Germany

3. Medizinisches Versorgungszentrum Dr. Eberhard und Partner; Dortmund Germany

4. Department of Neurology; Marien-Hospital; Euskirchen Germany

5. Department of Pediatrics; RWTH Aachen University Hospital; Aachen Germany

6. Bld. de la Pétrusse 98; Luxembourg Luxembourg

7. Institute of Human Genetics; University of Würzburg; Würzburg Germany

8. Friedrich-Baur-Institut; Neurologische Klinik und Poliklinik; Ludwig-Maximilians-University; München Germany

Funder

Bundesministerium für Bildung und Forschung

Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen

Deutsche Forschungsgemeinschaft

RWTH Aachen University

Deutsche Gesellschaft für Muskelkranke e.V.

Publisher

Wiley

Subject

Clinical Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/prca.201600007/fullpdf

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4. Cells respond to mechanical stress by rapid disassembly of caveolae;Sinha;Cell,2011

5. Caveolinopathy-new mutations and additional symptoms;Aboumousa;Neuromuscul. Disord.,2008

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