Literature DB >> 23117950

The muscular dystrophies.

Kevin M Flanigan1.   

Abstract

The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. Recent advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a unified model of pathogenesis in facioscapulohumeral dystrophy. These advances are reflected in the development of new therapeutic approaches, some of which have already led to clinical trials in the dystrophinopathies and limb-girdle dystrophies. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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Year:  2012        PMID: 23117950     DOI: 10.1055/s-0032-1329199

Source DB:  PubMed          Journal:  Semin Neurol        ISSN: 0271-8235            Impact factor:   3.420


  30 in total

1.  Reduced serum myostatin concentrations associated with genetic muscle disease progression.

Authors:  Peter M Burch; Oksana Pogoryelova; Joe Palandra; Richard Goldstein; Donald Bennett; Lori Fitz; Michela Guglieri; Chiara Marini Bettolo; Volker Straub; Teresinha Evangelista; Hendrik Neubert; Hanns Lochmüller; Carl Morris
Journal:  J Neurol       Date:  2017-01-10       Impact factor: 4.849

2.  An image processing approach to analyze morphological features of microscopic images of muscle fibers.

Authors:  Cesar Henrique Comin; Xiaoyin Xu; Yaming Wang; Luciano da Fontoura Costa; Zhong Yang
Journal:  Comput Med Imaging Graph       Date:  2014-07-31       Impact factor: 4.790

3.  Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.

Authors:  Takako I Jones; Charis L Himeda; Daniel P Perez; Peter L Jones
Journal:  Neuromuscul Disord       Date:  2016-12-23       Impact factor: 4.296

Review 4.  Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy.

Authors:  Jennifer M Bell; Michael D Shields; Janet Watters; Alistair Hamilton; Timothy Beringer; Mark Elliott; Rosaline Quinlivan; Sandya Tirupathi; Bronagh Blackwood
Journal:  Cochrane Database Syst Rev       Date:  2017-01-24

5.  Isolation and immortalization of patient-derived cell lines from muscle biopsy for disease modeling.

Authors:  Jerome D Robin; Woody E Wright; Yaqun Zou; Stacy C Cossette; Michael W Lawlor; Emanuela Gussoni
Journal:  J Vis Exp       Date:  2015-01-18       Impact factor: 1.355

6.  Androgen receptor agonists increase lean mass, improve cardiopulmonary functions and extend survival in preclinical models of Duchenne muscular dystrophy.

Authors:  Suriyan Ponnusamy; Ryan D Sullivan; Dahui You; Nadeem Zafar; Chuan He Yang; Thirumagal Thiyagarajan; Daniel L Johnson; Maron L Barrett; Nikki J Koehler; Mayra Star; Erin J Stephenson; Dave Bridges; Stephania A Cormier; Lawrence M Pfeffer; Ramesh Narayanan
Journal:  Hum Mol Genet       Date:  2017-07-01       Impact factor: 6.150

7.  Comparative transcriptome analysis of muscular dystrophy models Large(myd), Dmd(mdx)/Large(myd) and Dmd(mdx): what makes them different?

Authors:  Camila F Almeida; Poliana Cm Martins; Mariz Vainzof
Journal:  Eur J Hum Genet       Date:  2016-03-02       Impact factor: 4.246

8.  Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.

Authors:  Julien Couthouis; Alya R Raphael; Carly Siskind; Andrew R Findlay; Jason D Buenrostro; William J Greenleaf; Hannes Vogel; John W Day; Kevin M Flanigan; Aaron D Gitler
Journal:  Neuromuscul Disord       Date:  2014-02-10       Impact factor: 4.296

Review 9.  Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy.

Authors:  David G Allen; Nicholas P Whitehead; Stanley C Froehner
Journal:  Physiol Rev       Date:  2016-01       Impact factor: 37.312

10.  204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands.

Authors:  Alessandra Ferlini; Kevin M Flanigan; Hanns Lochmuller; Francesco Muntoni; Peter A C 't Hoen; Elizabeth McNally
Journal:  Neuromuscul Disord       Date:  2014-09-11       Impact factor: 4.296

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