Publications by authors named "Rolf Stucka"

20Publications

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

Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes.

Transgenic Res 2011 Feb 13;20(1):123-35. Epub 2010 May 13.

Department of Neurology Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany.

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http://dx.doi.org/10.1007/s11248-010-9401-xDOI Listing
February 2011

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Hum Mutat 2009 Sep;30(9):E831-44

Departments of Clinical Sciences and Neurology Karolinska Institutet Danderyds Hospital, Division of Rehabilitation Medicine, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.21063DOI Listing
September 2009

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

Neuromuscul Disord 2004 Nov;14(11):744-9

Department of Neurology and Gene Center, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1016/j.nmd.2004.06.010DOI Listing
November 2004

Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice.

Mol Ther 2003 Jul;8(1):80-9

Gene Center, Friedrich-Baur-Institute, and Department of Neurology, Ludwig-Maximilians University, 81377, Munich, Germany.

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http://dx.doi.org/10.1016/s1525-0016(03)00129-1DOI Listing
July 2003

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.

Neuromuscul Disord 2003 Mar;13(3):245-51

Department of Neurology, and Genzentrum, Ludwig-Maximilians-Universität München, Feodor-Lynen-Strasse 25, 81377 Munich, Germany.

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http://dx.doi.org/10.1016/s0960-8966(02)00273-0DOI Listing
March 2003