Publications by authors named "Marina Dusl"

17Publications

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J Neurol 2019 May 14;266(5):1107-1112. Epub 2019 Feb 14.

Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Marchioninistrasse 17, 81377, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-019-09239-7DOI Listing
May 2019

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

J Neurol 2018 Jan 30;265(1):194-203. Epub 2017 Nov 30.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1007/s00415-017-8689-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760613PMC
January 2018

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Hum Mol Genet 2015 Jun 12;24(12):3418-26. Epub 2015 Mar 12.

Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336 Munich, Germany,

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http://dx.doi.org/10.1093/hmg/ddv090DOI Listing
June 2015

Cardiac differentiation in Xenopus is initiated by mespa.

Cardiovasc Res 2013 Mar 12;97(3):454-63. Epub 2012 Dec 12.

Department of Molecular Biology, Adolf-Butenandt-Institute, University of Munich LMU, Schillerstraβe 44, 80336 München, Germany.

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http://dx.doi.org/10.1093/cvr/cvs354DOI Listing
March 2013