Literature DB >> 24435591

Recent advances in myotonic dystrophy type 2.

Christina M Ulane1, Sarah Teed, Jacinda Sampson.   

Abstract

Myotonic dystrophy is the commonest adult muscular dystrophy. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are often discussed jointly, and although they share many clinical and molecular features, differences do exist. Historically, more is known about DM1 than about DM2. The literature in the field of myotonic dystrophy is broad, with advances in our understanding of DM2. This article reviews recent developments in DM2 with respect to diagnosis, systemic features, and molecular mechanisms of the disease.

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Year:  2014        PMID: 24435591     DOI: 10.1007/s11910-013-0429-1

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  48 in total

1.  Cerebral and muscle MRI abnormalities in myotonic dystrophy.

Authors:  Daniel T Franc; Ryan L Muetzel; Paul R Robinson; Craig P Rodriguez; Joline C Dalton; Cameron E Naughton; Bryon A Mueller; Jeffrey R Wozniak; Kelvin O Lim; John W Day
Journal:  Neuromuscul Disord       Date:  2012-01-30       Impact factor: 4.296

2.  Correlates of tumor development in patients with myotonic dystrophy.

Authors:  Maya Das; Richard T Moxley; James E Hilbert; William B Martens; Lisa Letren; Mark H Greene; Shahinaz M Gadalla
Journal:  J Neurol       Date:  2012-05-23       Impact factor: 4.849

3.  Pain in patients with myotonic dystrophy type 2: a postal survey in Finland.

Authors:  Kimmo I Suokas; Maija Haanpää; Hannu Kautiainen; Bjarne Udd; Aki J Hietaharju
Journal:  Muscle Nerve       Date:  2012-01       Impact factor: 3.217

4.  A role for PLCβ1 in myotonic dystrophies type 1 and 2.

Authors:  Irene Faenza; William Blalock; Alberto Bavelloni; Benedikt Schoser; Roberta Fiume; Stephaniè Pacella; Manuela Piazzi; Antonietta D'Angelo; Lucio Cocco
Journal:  FASEB J       Date:  2012-03-29       Impact factor: 5.191

5.  Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2.

Authors:  Z Lukáš; M Falk; J Feit; O Souček; I Falková; L Štefančíková; E Janoušová; L Fajkusová; J Zaorálková; R Hrabálková
Journal:  Neuromuscul Disord       Date:  2012-04-19       Impact factor: 4.296

6.  Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current.

Authors:  Jim Berg; Hong Jiang; Charles A Thornton; Stephen C Cannon
Journal:  Neurology       Date:  2004-12-28       Impact factor: 9.910

7.  Electromyography guides toward subgroups of mutations in muscle channelopathies.

Authors:  Emmanuel Fournier; Marianne Arzel; Damien Sternberg; Savine Vicart; Pascal Laforet; Bruno Eymard; Jean-Claude Willer; Nacira Tabti; Bertrand Fontaine
Journal:  Ann Neurol       Date:  2004-11       Impact factor: 10.422

8.  Splicing biomarkers of disease severity in myotonic dystrophy.

Authors:  Masayuki Nakamori; Krzysztof Sobczak; Araya Puwanant; Steve Welle; Katy Eichinger; Shree Pandya; Jeannne Dekdebrun; Chad R Heatwole; Michael P McDermott; Tian Chen; Melissa Cline; Rabi Tawil; Robert J Osborne; Thurman M Wheeler; Maurice S Swanson; Richard T Moxley; Charles A Thornton
Journal:  Ann Neurol       Date:  2013-12       Impact factor: 10.422

9.  Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2.

Authors:  Massimo Santoro; Marcella Masciullo; Davide Bonvissuto; Maria Laura Ester Bianchi; Fabrizio Michetti; Gabriella Silvestri
Journal:  Mol Cell Biochem       Date:  2013-05-11       Impact factor: 3.396

10.  Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.

Authors:  Tiina Suominen; Linda L Bachinski; Satu Auvinen; Peter Hackman; Keith A Baggerly; Corrado Angelini; Leena Peltonen; Ralf Krahe; Bjarne Udd
Journal:  Eur J Hum Genet       Date:  2011-03-02       Impact factor: 4.246

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  3 in total

1.  (CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis.

Authors:  Vildan Betul Yenigun; Mario Sirito; Alla Amcheslavky; Tomek Czernuszewicz; Jordi Colonques-Bellmunt; Irma García-Alcover; Marzena Wojciechowska; Clare Bolduc; Zhihong Chen; Arturo López Castel; Ralf Krahe; Andreas Bergmann
Journal:  Dis Model Mech       Date:  2017-06-16       Impact factor: 5.758

2.  Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia.

Authors:  Josef Finsterer; Georg Safoschnik; Martina Witsch-Baumgartner
Journal:  SAGE Open Med Case Rep       Date:  2017-04-10

3.  Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNA‑target gene networks.

Authors:  Dewang Shao; Xiaoquan Zhu; Wei Sun; Lu Huo; Wei Chen; Hua Wang; Bing Liu; Peng Pan
Journal:  Mol Med Rep       Date:  2017-07-21       Impact factor: 2.952

  3 in total

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