Literature DB >> 29671051

Update on muscle disease.

J Witherick1, S Brady2.   

Abstract

In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions.

Entities:  

Keywords:  Duchenne muscular dystrophy; Inclusion body myositis; Limb-girdle muscular dystrophy; Myasthenia gravis; Myopathy; Spinal muscular atrophy

Mesh:

Year:  2018        PMID: 29671051     DOI: 10.1007/s00415-018-8856-1

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  61 in total

1.  Discrimination of genetic entities in muscular dystrophy.

Authors:  C S CHUNG; N E MORTON
Journal:  Am J Hum Genet       Date:  1959-12       Impact factor: 11.025

2.  A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

Authors:  Luigi Bisceglia; Stefano Zoccolella; Alessandra Torraco; Maria Rosaria Piemontese; Rosa Dell'Aglio; Angela Amati; Patrizia De Bonis; Lucia Artuso; Massimiliano Copetti; Filippo Maria Santorelli; Luigi Serlenga; Leopoldo Zelante; Enrico Bertini; Vittoria Petruzzella
Journal:  Eur J Hum Genet       Date:  2010-01-13       Impact factor: 4.246

3.  Thymectomy: the more you know, the more you know you don't know.

Authors:  Jon Sussman
Journal:  Pract Neurol       Date:  2016-11-09

4.  GSK3β mediates muscle pathology in myotonic dystrophy.

Authors:  Karlie Jones; Christina Wei; Polina Iakova; Enrico Bugiardini; Christiane Schneider-Gold; Giovanni Meola; James Woodgett; James Killian; Nikolai A Timchenko; Lubov T Timchenko
Journal:  J Clin Invest       Date:  2012-11-19       Impact factor: 14.808

5.  Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases.

Authors:  Megan K Herbert; Judith Stammen-Vogelzangs; Marcel M Verbeek; Anke Rietveld; Ingrid E Lundberg; Hector Chinoy; Janine A Lamb; Robert G Cooper; Mark Roberts; Umesh A Badrising; Jan L De Bleecker; Pedro M Machado; Michael G Hanna; Lenka Plestilova; Jiri Vencovsky; Baziel G van Engelen; Ger J M Pruijn
Journal:  Ann Rheum Dis       Date:  2015-02-24       Impact factor: 19.103

6.  STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.

Authors:  Capucine Picard; Christie-Ann McCarl; Alexander Papolos; Sara Khalil; Kevin Lüthy; Claire Hivroz; Francoise LeDeist; Frédéric Rieux-Laucat; Gideon Rechavi; Anjana Rao; Alain Fischer; Stefan Feske
Journal:  N Engl J Med       Date:  2009-05-07       Impact factor: 91.245

7.  Respiratory muscle decline in Duchenne muscular dystrophy.

Authors:  Sonia Khirani; Adriana Ramirez; Guillaume Aubertin; Michèle Boulé; Chrystelle Chemouny; Véronique Forin; Brigitte Fauroux
Journal:  Pediatr Pulmonol       Date:  2013-07-08

Review 8.  Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.

Authors:  Olivier Benveniste; Werner Stenzel; David Hilton-Jones; Marco Sandri; Olivier Boyer; Baziel G M van Engelen
Journal:  Acta Neuropathol       Date:  2015-01-13       Impact factor: 17.088

9.  Promotion of natural tooth repair by small molecule GSK3 antagonists.

Authors:  Vitor C M Neves; Rebecca Babb; Dhivya Chandrasekaran; Paul T Sharpe
Journal:  Sci Rep       Date:  2017-01-09       Impact factor: 4.379

10.  A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis.

Authors:  Stefen Brady; Waney Squier; Caroline Sewry; Michael Hanna; David Hilton-Jones; Janice L Holton
Journal:  BMJ Open       Date:  2014-04-28       Impact factor: 2.692

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  4 in total

Review 1.  [Research advances in limb-girdle muscular dystrophy type 2Q].

Authors:  Min Zhang; Dan Lan
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2019-08

2.  KAP1-associated transcriptional inhibitory complex regulates C2C12 myoblasts differentiation and mitochondrial biogenesis via miR-133a repression.

Authors:  Jialing Zhang; Chaoju Hua; Yu Zhang; Peng Wei; Yaping Tu; Taotao Wei
Journal:  Cell Death Dis       Date:  2020-09-09       Impact factor: 8.469

3.  Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.

Authors:  Kaiyan Jiang; Yilei Zheng; Jing Lin; Xiaorong Wu; Yanyan Yu; Min Zhu; Xin Fang; Meihong Zhou; Xiaobing Li; Daojun Hong
Journal:  Brain Behav       Date:  2022-01-03       Impact factor: 3.405

4.  Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort.

Authors:  Hongxia Yang; Xiaolan Tian; Lining Zhang; Wenli Li; Qingyan Liu; Wei Jiang; Qinglin Peng; Guochun Wang; Xin Lu
Journal:  BMC Musculoskelet Disord       Date:  2022-05-06       Impact factor: 2.562

  4 in total

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