Literature DB >> 27639504

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands.

Isabelle Richard1, Jean-Pierre Laurent2, Sebahattin Cirak3, John Vissing4.   

Abstract

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Year:  2016        PMID： 27639504     DOI： 10.1016/j.nmd.2016.08.012

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


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  6 in total

Review 1.  Fukutin-Related Protein: From Pathology to Treatments.

Authors:  Carolina Ortiz-Cordero; Karim Azzag; Rita C R Perlingeiro
Journal:  Trends Cell Biol       Date:  2020-12-01       Impact factor: 20.808

2.  FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.

Authors:  A J Wood; C H Lin; M Li; K Nishtala; S Alaei; F Rossello; C Sonntag; L Hersey; L B Miles; C Krisp; S Dudczig; A J Fulcher; S Gibertini; P J Conroy; A Siegel; M Mora; P Jusuf; N H Packer; P D Currie
Journal:  Nat Commun       Date:  2021-05-19       Impact factor: 14.919

3.  Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

Authors:  Alexander P Murphy; Jasper Morrow; Julia R Dahlqvist; Tanya Stojkovic; Tracey A Willis; Christopher D J Sinclair; Stephen Wastling; Tarek Yousry; Michael S Hanna; Meredith K James; Anna Mayhew; Michelle Eagle; Laurence E Lee; Jean-Yves Hogrel; Pierre G Carlier; John S Thornton; John Vissing; Kieren G Hollingsworth; Volker Straub
Journal:  Ann Clin Transl Neurol       Date:  2019-05-16       Impact factor: 4.511

4.  Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I.

Authors:  Karim Azzag; Carolina Ortiz-Cordero; Nelio A J Oliveira; Alessandro Magli; Sridhar Selvaraj; Sudheer Tungtur; Weston Upchurch; Paul A Iaizzo; Qi Long Lu; Rita C R Perlingeiro
Journal:  Skelet Muscle       Date:  2020-04-22       Impact factor: 4.912

5.  Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.

Authors:  Carolina Ortiz-Cordero; Claudia Bincoletto; Neha R Dhoke; Sridhar Selvaraj; Alessandro Magli; Haowen Zhou; Do-Hyung Kim; Anne G Bang; Rita C R Perlingeiro
Journal:  Stem Cell Reports       Date:  2021-10-14       Impact factor: 7.765

6.  Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.

Authors:  Zhiying Xie; Jiangxi Xiao; Yiming Zheng; Zhaoxia Wang; Yun Yuan
Journal:  Biomed Res Int       Date:  2018-05-29       Impact factor: 3.411
  6 in total

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