Literature DB >> 12921797

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands.

B Udd1, G Meola, R Krahe, C Thornton, L Ranum, J Day, G Bassez, K Ricker.   

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Year:  2003        PMID： 12921797     DOI： 10.1016/s0960-8966(03)00092-0

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


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  19 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.  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 3.  Muscle biopsy.

Authors:  G Meola; E Bugiardini; R Cardani
Journal:  J Neurol       Date:  2011-07-30       Impact factor: 4.849

Review 4.  Myotonic dystrophy type 2 and related myotonic disorders.

Authors:  Giovanni Meola; Richard T Moxley
Journal:  J Neurol       Date:  2004-10       Impact factor: 4.849

5.  Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2.

Authors:  A Vihola; M Sirito; L L Bachinski; O Raheem; M Screen; T Suominen; R Krahe; B Udd
Journal:  Neuropathol Appl Neurobiol       Date:  2013-06       Impact factor: 8.090

6.  Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients.

Authors:  C Papadopoulos; K Kekou; S Xirou; S Kitsiou-Tzeli; E Kararizou; G K Papadimas
Journal:  Eye (Lond)       Date:  2017-12-08       Impact factor: 3.775

7.  Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.

Authors:  Benedikt Schoser; Lubov Timchenko
Journal:  Curr Genomics       Date:  2010-04       Impact factor: 2.236

8.  Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

Authors:  Anna Vihola; Linda L Bachinski; Mario Sirito; Shodimu-Emmanuel Olufemi; Shohrae Hajibashi; Keith A Baggerly; Olayinka Raheem; Hannu Haapasalo; Tiina Suominen; Jeanette Holmlund-Hampf; Anders Paetau; Rosanna Cardani; Giovanni Meola; Hannu Kalimo; Lars Edström; Ralf Krahe; Bjarne Udd
Journal:  Acta Neuropathol       Date:  2010-01-12       Impact factor: 17.088

9.  Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia.

Authors:  Satu Auvinen; Tiina Suominen; Pekka Hannonen; Linda L Bachinski; Ralf Krahe; Bjarne Udd
Journal:  Arthritis Rheum       Date:  2008-11

10.  Premutation allele pool in myotonic dystrophy type 2.

Authors:  L L Bachinski; T Czernuszewicz; L S Ramagli; T Suominen; M D Shriver; B Udd; M J Siciliano; R Krahe
Journal:  Neurology       Date:  2008-11-19       Impact factor: 9.910
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