Literature DB >> 12117486

99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands.

P S Harper1, B G M van Engelen, B Eymard, M Rogers, D Wilcox.   

Abstract

Entities:  

Mesh：

Year:  2002        PMID： 12117486     DOI： 10.1016/s0960-8966(02)00020-2

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


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  16 in total

1.  Myotonic dystrophy: practical issues relating to assessment of strength.

Authors:  R G Whittaker; E Ferenczi; D Hilton-Jones
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-11       Impact factor: 10.154

2.  MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

Authors:  Vincent Huin; Francis Vasseur; Susanna Schraen-Maschke; Claire-Marie Dhaenens; Patrick Devos; Kathy Dupont; Nicolas Sergeant; Luc Buée; Arnaud Lacour; Hélène Hofmann-Radvanyi; Bernard Sablonnière
Journal:  J Neurol       Date:  2012-11-16       Impact factor: 4.849

3.  [Upper abdominal pain, nausea, and vomiting in a 63-year-old woman].

Authors:  S Schwarzer; K Rapis
Journal:  Internist (Berl)       Date:  2017-12       Impact factor: 0.743

4.  Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients.

Authors:  F Rinaldi; A Botta; L Vallo; G Contino; A Morgante; R Iraci; C Catalli; G Silvestri; V M Ventriglia; L Politano; G Novelli
Journal:  Acta Myol       Date:  2008-12

5.  Unmasked Brugada pattern by ajmaline challenge in patients with myotonic dystrophy type 1.

Authors:  Thomas Pambrun; Agustín Bortone; Patrick Bois; Bruno Degand; Sylvie Patri; Aurélie Mercier; Mohamed Chahine; Aurélien Chatelier; Damien Coisne; Alain Amiel
Journal:  Ann Noninvasive Electrocardiol       Date:  2014-06-18       Impact factor: 1.468

6.  Altered nuclear structure in myotonic dystrophy type 1-derived fibroblasts.

Authors:  R Rodríguez; O Hernández-Hernández; J J Magaña; R González-Ramírez; E S García-López; B Cisneros
Journal:  Mol Biol Rep       Date:  2014-10-12       Impact factor: 2.316

7.  Living with myotonic dystrophy; what can be learned from couples? A qualitative study.

Authors:  Edith H C Cup; Astrid Kinébanian; Ton Satink; Allan J Pieterse; Henk T Hendricks; Rob A B Oostendorp; Gert Jan van der Wilt; Baziel G M van Engelen
Journal:  BMC Neurol       Date:  2011-07-13       Impact factor: 2.474

8.  Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

Authors:  Alessandra Perfetti; Simona Greco; Pasquale Fasanaro; Enrico Bugiardini; Rosanna Cardani; Jose M Garcia-Manteiga; Jose M Garcia Manteiga; Michela Riba; Davide Cittaro; Elia Stupka; Giovanni Meola; Fabio Martelli
Journal:  PLoS One       Date:  2014-04-10       Impact factor: 3.240

Review 9.  Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.

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

10.  High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.

Authors:  James E Hilbert; Richard J Barohn; Paula R Clemens; Elizabeth A Luebbe; William B Martens; Michael P McDermott; Amy L Parkhill; Rabi Tawil; Charles A Thornton; Richard T Moxley
Journal:  Neurology       Date:  2017-08-30       Impact factor: 9.910
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