Literature DB >> 16684600

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management.

B Udd1, G Meola, R Krahe, C Thornton, L P W Ranum, G Bassez, W Kress, B Schoser, R Moxley.   

Abstract

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Year:  2006        PMID： 16684600     DOI： 10.1016/j.nmd.2006.03.010

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  33 in total

1.  Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.

Authors:  Olayinka Raheem; Shodimu-Emmanuel Olufemi; Linda L Bachinski; Anna Vihola; Mario Sirito; Jeanette Holmlund-Hampf; Hannu Haapasalo; Yi-Ping Li; Bjarne Udd; Ralf Krahe
Journal:  Am J Pathol       Date:  2010-10-22       Impact factor: 4.307

2.  Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.

Authors:  Federica Montagnese; Stefania Mondello; Stephan Wenninger; Wolfram Kress; Benedikt Schoser
Journal:  J Neurol       Date:  2017-10-30       Impact factor: 4.849

3.  High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.

Authors:  T Suominen; B Schoser; O Raheem; S Auvinen; M Walter; R Krahe; H Lochmüller; W Kress; B Udd
Journal:  J Neurol       Date:  2008-09-24       Impact factor: 4.849

Review 4.  Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases.

Authors:  Craig M McDonald
Journal:  Phys Med Rehabil Clin N Am       Date:  2012-08       Impact factor: 1.784

Review 5.  Myotonic dystrophy.

Authors:  Charles A Thornton
Journal:  Neurol Clin       Date:  2014-06-06       Impact factor: 3.806

Review 6.  Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.

Authors:  Kevin Yum; Eric T Wang; Auinash Kalsotra
Journal:  Curr Opin Genet Dev       Date:  2017-02-14       Impact factor: 5.578

7.  Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.

Authors:  Linda L Bachinski; Keith A Baggerly; Valerie L Neubauer; Tamara J Nixon; Olayinka Raheem; Mario Sirito; Anna K Unruh; Jiexin Zhang; Lalitha Nagarajan; Lubov T Timchenko; Guillaume Bassez; Bruno Eymard; Josep Gamez; Tetsuo Ashizawa; Jerry R Mendell; Bjarne Udd; Ralf Krahe
Journal:  Neuromuscul Disord       Date:  2013-11-15       Impact factor: 4.296

8.  Laboratory abnormalities in patients with myotonic dystrophy type 2.

Authors:  Chad Heatwole; Nicholas Johnson; Bradley Goldberg; William Martens; Richard Moxley
Journal:  Arch Neurol       Date:  2011-09

9.  Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.

Authors:  Mark Screen; Per Harald Jonson; Olayinka Raheem; Johanna Palmio; Reijo Laaksonen; Terho Lehtimäki; Mario Sirito; Ralf Krahe; Peter Hackman; Bjarne Udd
Journal:  Am J Pathol       Date:  2014-06-05       Impact factor: 4.307

10.  ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2.

Authors:  Morgan A Sammons; Amanda K Antons; Mourad Bendjennat; Bjarne Udd; Ralf Krahe; Andrew J Link
Journal:  PLoS One       Date:  2010-02-18       Impact factor: 3.240
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