Literature DB >> 11801405

Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands.

Richard T Moxley1, Giovanni Meola, Bjarne Udd, Kenneth Ricker.   

Abstract

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Mesh：

Year:  2002        PMID： 11801405     DOI： 10.1016/s0960-8966(01)00284-x

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


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  17 in total

1.  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

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.  Myotonic dystrophy type 2 and related myotonic disorders.

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

4.  Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.

Authors:  Timothy R Fullam; Swathy Chandrashekhar; Constantine Farmakidis; Omar Jawdat; Mamatha Pasnoor; Mazen M Dimachkie; Jeffrey M Statland
Journal:  Muscle Nerve       Date:  2022-06-16       Impact factor: 3.852

5.  Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Authors:  Linda L Bachinski; Bjarne Udd; Giovanni Meola; Valeria Sansone; Guillaume Bassez; Bruno Eymard; Charles A Thornton; Richard T Moxley; Peter S Harper; Mark T Rogers; Karin Jurkat-Rott; Frank Lehmann-Horn; Thomas Wieser; Josep Gamez; Carmen Navarro; Armand Bottani; Andre Kohler; Mark D Shriver; Riitta Sallinen; Maija Wessman; Shanxiang Zhang; Fred A Wright; Ralf Krahe
Journal:  Am J Hum Genet       Date:  2003-09-10       Impact factor: 11.025

6.  Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence.

Authors:  M Malatesta; M Giagnacovo; L V Renna; R Cardani; G Meola; C Pellicciari
Journal:  Eur J Histochem       Date:  2011-08-27       Impact factor: 3.188

Review 7.  Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.

Authors:  Giovanni Meola
Journal:  Acta Myol       Date:  2013-12

8.  Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction.

Authors:  L V Renna; R Cardani; A Botta; G Rossi; B Fossati; E Costa; G Meola
Journal:  Eur J Histochem       Date:  2014-10-22       Impact factor: 3.188

Review 9.  RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study.

Authors:  F Perdoni; M Malatesta; R Cardani; M Giagnacovo; E Mancinelli; G Meola; C Pellicciari
Journal:  Eur J Histochem       Date:  2009-09-30       Impact factor: 3.188

10.  Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

Authors:  Rosanna Cardani; Enrico Bugiardini; Laura V Renna; Giulia Rossi; Graziano Colombo; Rea Valaperta; Giuseppe Novelli; Annalisa Botta; Giovanni Meola
Journal:  PLoS One       Date:  2013-12-20       Impact factor: 3.240
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