Literature DB >> 27270116

Myotonic dystrophy type 1.

Cam-Tu Emilie Nguyen1, Craig Campbell2.   

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Year:  2016        PMID： 27270116      PMCID： PMC5047820          DOI： 10.1503/cmaj.151384

Source DB:  PubMed          Journal:  CMAJ        ISSN： 0820-3946            Impact factor:   8.262


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  7 in total

1.  Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Authors:  Vania Yotova; Damian Labuda; Ewa Zietkiewicz; Dominik Gehl; Alan Lovell; Jean-François Lefebvre; Stéphane Bourgeois; Emilie Lemieux-Blanchard; Marcin Labuda; Hélène Vézina; Louis Houde; Marc Tremblay; Bruno Toupance; Evelyne Heyer; Thomas J Hudson; Claude Laberge
Journal:  Hum Genet       Date:  2005-05-10       Impact factor: 4.132

Review 2.  Myotonic dystrophy: diagnosis, management and new therapies.

Authors:  Chris Turner; David Hilton-Jones
Journal:  Curr Opin Neurol       Date:  2014-10       Impact factor: 5.710

3.  Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1.

Authors:  E L Logigian; W B Martens; R T Moxley; M P McDermott; N Dilek; A W Wiegner; A T Pearson; C A Barbieri; C L Annis; C A Thornton; R T Moxley
Journal:  Neurology       Date:  2010-05-04       Impact factor: 9.910

Review 4.  Prevalence of muscular dystrophies: a systematic literature review.

Authors:  Alice Theadom; Miriam Rodrigues; Richard Roxburgh; Shiavnthi Balalla; Chris Higgins; Rohit Bhattacharjee; Kelly Jones; Rita Krishnamurthi; Valery Feigin
Journal:  Neuroepidemiology       Date:  2014-12-16       Impact factor: 3.282

5.  Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1.

Authors:  William J Groh; Miriam R Groh; Chandan Saha; John C Kincaid; Zachary Simmons; Emma Ciafaloni; Rahman Pourmand; Richard F Otten; Deepak Bhakta; Girish V Nair; Mohammad M Marashdeh; Douglas P Zipes; Robert M Pascuzzi
Journal:  N Engl J Med       Date:  2008-06-19       Impact factor: 91.245

6.  Congenital myotonic dystrophy: assisted ventilation duration and outcome.

Authors:  Craig Campbell; Rebecca Sherlock; Pierre Jacob; Marc Blayney
Journal:  Pediatrics       Date:  2004-04       Impact factor: 7.124

7.  Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial.

Authors:  Jack Puymirat; Jean-Pierre Bouchard; Jean Mathieu
Journal:  Clin Ther       Date:  2012-05       Impact factor: 3.393
  7 in total
  5 in total

1.  Myotonic dystrophy type 1 presenting with dyspnea: A case report.

Authors:  Yu-Xi Jia; Chun-Ling Dong; Jia-Wei Xue; Xiao-Qin Duan; Ming-Yu Xu; Xiao-Min Su; Ping Li
Journal:  World J Clin Cases       Date:  2022-07-16       Impact factor: 1.534

Review 2.  Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Authors:  Dai Yang-Li; Luo Fei-Hong; Zhang Hui-Wen; Ma Ming-Sheng; Luo Xiao-Ping; Liu Li; Wang Yi; Zhou Qing; Jiang Yong-Hui; Zou Chao-Chun
Journal:  Orphanet J Rare Dis       Date:  2022-06-13       Impact factor: 4.303

3.  miR-322/miR-503 clusters regulate defective myoblast differentiation in myotonic dystrophy RNA-toxic by targeting Celf1.

Authors:  Wei Dong; Qian Liu; Zhi-Chao Wang; Xing-Xiang Du; Lei-Lei Liu; Nan Wang; Jun-Fei Weng; Xiao-Ping Peng
Journal:  Toxicol Res (Camb)       Date:  2021-01-05       Impact factor: 3.524

Review 4.  Skeletal muscle in health and disease.

Authors:  Jennifer Morgan; Terence Partridge
Journal:  Dis Model Mech       Date:  2020-02-06       Impact factor: 5.758

5.  Responsiveness of outcome measures in myotonic dystrophy type 1.

Authors:  Kirsten L Knak; Aisha M Sheikh; Nanna Witting; John Vissing
Journal:  Ann Clin Transl Neurol       Date:  2020-07-16       Impact factor: 4.511
  5 in total

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