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GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Lookup NU author(s): Dr Oksana Pogoryelova, Professor Hanns Lochmuller

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Publication metadata

Author(s): Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2015

Volume: 25

Issue: 9

Pages: 73-718

Print publication date: 01/09/2015

Online publication date: 13/07/2015

Acceptance date: 07/07/2015

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://www.sciencedirect.com/science/article/pii/S0960896615006628

DOI: 10.1016/j.nmd.2015.07.004

PubMed id: 26231298

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Funding

Funder referenceFunder name
project "Clinical and genetic study of a novel autosomal recessive distal myopathy with onset in the anterior compartment and cardiac involvement in Gypsies" - Association Francaise contre les Myopathies (AFM)
Tom Wahlig Foundation, Jena
Alexander von Humboldt Foundation
project "Clinical and genetic study of distal myopathies in Bulgaria" - Medical University of Sofia
305121European Union
305444European Union
IWS BOF 2008 23064University of Antwerp

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