Literature DB >> 24613424

199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.

Anne T Bertrand1, Carsten G Bönnemann2, Gisèle Bonne3.   

Abstract

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Year:  2014        PMID： 24613424      PMCID： PMC5210188          DOI： 10.1016/j.nmd.2014.02.002

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


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  32 in total

1.  2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.

Authors:  Bernard J Gersh; Barry J Maron; Robert O Bonow; Joseph A Dearani; Michael A Fifer; Mark S Link; Srihari S Naidu; Rick A Nishimura; Steve R Ommen; Harry Rakowski; Christine E Seidman; Jeffrey A Towbin; James E Udelson; Clyde W Yancy
Journal:  J Thorac Cardiovasc Surg       Date:  2011-12       Impact factor: 5.209

2.  Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.

Authors:  Teerin Liewluck; Yukiko K Hayashi; Maki Ohsawa; Rumi Kurokawa; Masako Fujita; Satoru Noguchi; Ikuya Nonaka; Ichizo Nishino
Journal:  Muscle Nerve       Date:  2007-03       Impact factor: 3.217

3.  Muscle MRI in FHL1-linked reducing body myopathy.

Authors:  G Astrea; J Schessl; E Clement; M Tosetti; E Mercuri; M Rutherford; G Cioni; C G Bönnemann; F Muntoni; R Battini
Journal:  Neuromuscul Disord       Date:  2009-07-17       Impact factor: 4.296

Review 4.  Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.

Authors:  H H Goebel; L E Halbig; L Goldfarb; R Schober; M Albani; E Neuen-Jacob; T Voit
Journal:  Neuropediatrics       Date:  2001-08       Impact factor: 1.947

5.  Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.

Authors:  Felix W Friedrich; Brendan R Wilding; Silke Reischmann; Claudia Crocini; Patrick Lang; Philippe Charron; Oliver J Müller; Meagan J McGrath; Ingra Vollert; Arne Hansen; Wolfgang A Linke; Christian Hengstenberg; Gisèle Bonne; Stellan Morner; Thomas Wichter; Hugo Madeira; Eloisa Arbustini; Thomas Eschenhagen; Christina A Mitchell; Richard Isnard; Lucie Carrier
Journal:  Hum Mol Genet       Date:  2012-04-20       Impact factor: 6.150

6.  Identification of an FHL1 protein complex containing ACTN1, ACTN4, and PDLIM1 using affinity purifications and MS-based protein-protein interaction analysis.

Authors:  Parveen Sharma; Thiruchelvi Shathasivam; Vladimir Ignatchenko; Thomas Kislinger; Anthony O Gramolini
Journal:  Mol Biosyst       Date:  2011-01-18

7.  Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

Authors:  Duygu Selcen; Mark B Bromberg; Steven S Chin; Andrew G Engel
Journal:  Neurology       Date:  2011-11-16       Impact factor: 9.910

8.  Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.

Authors:  Sarah Feldkirchner; Maggie C Walter; Stefan Müller; Christiana Kubny; Sabine Krause; Wolfram Kress; Franz-Georg Hanisch; Benedikt Schoser; Joachim Schessl
Journal:  Neuromuscul Disord       Date:  2013-03-13       Impact factor: 4.296

9.  Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.

Authors:  Andrea A Domenighetti; Pao-Hsien Chu; Tongbin Wu; Farah Sheikh; David S Gokhin; Ling T Guo; Ziyou Cui; Angela K Peter; Danos C Christodoulou; Michael G Parfenov; Joshua M Gorham; Daniel Y Li; Indroneal Banerjee; Xianyin Lai; Frank A Witzmann; Christine E Seidman; Jonathan G Seidman; Aldrin V Gomes; G Diane Shelton; Richard L Lieber; Ju Chen
Journal:  Hum Mol Genet       Date:  2013-08-23       Impact factor: 6.150

10.  157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands.

Authors:  Anna Sárközy; Kate Bushby; Christophe Béroud; Hanns Lochmüller
Journal:  Neuromuscul Disord       Date:  2008-10-22       Impact factor: 4.296
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  4 in total

1.  FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.

Authors:  ZhenXian Hu; Ying Zhu; Xiao Liu; Wei Zhang; Jing Liu; Shiwen Wu; Jiangxi Xiao; Yun Yuan; Zhaoxia Wang
Journal:  J Hum Genet       Date:  2019-07-04       Impact factor: 3.172

2.  Role of Zebrafish fhl1A in Satellite Cell and Skeletal Muscle Development.

Authors:  F Chen; W Yuan; X Mo; J Zhuang; Y Wang; J Chen; Z Jiang; X Zhu; Q Zeng; Y Wan; F Li; Y Shi; L Cao; X Fan; S Luo; X Ye; Y Chen; G Dai; J Gao; X Wang; H Xie; P Zhu; Y Li; X Wu
Journal:  Curr Mol Med       Date:  2017       Impact factor: 2.222

3.  Autoantibodies against four-and-a-half-LIM domain 1 (FHL1) in inflammatory myopathies: results from an Australian single-centre cohort.

Authors:  Angeles S Galindo-Feria; Begum Horuluoglu; Jessica Day; Catia Fernandes-Cerqueira; Edvard Wigren; Susanne Gräslund; Susanna Proudman; Ingrid E Lundberg; Vidya Limaye
Journal:  Rheumatology (Oxford)       Date:  2022-10-06       Impact factor: 7.046

4.  Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene.

Authors:  Patrizia Sabatelli; Silvia Castagnaro; Francesca Tagliavini; Martina Chrisam; Francesca Sardone; Laurence Demay; Pascale Richard; Spartaco Santi; Nadir M Maraldi; Luciano Merlini; Marco Sandri; Paolo Bonaldo
Journal:  Front Aging Neurosci       Date:  2014-08-19       Impact factor: 5.750
  4 in total

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