199th ENMC international workshop: FHL1 related myopathies, June 7–9, 2013, Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference32 articles.
1. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features;Cowling;Neuromuscul Disord,2011
2. Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly;McGrath;J Biol Chem,2006
3. Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy;Cowling;J Cell Biol,2008
4. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy;Schessl;J Clin Invest,2008
5. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1;Windpassinger;Am J Hum Genet,2008
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1. Anti-FHL1 autoantibodies in adult patients with myositis: a longitudinal follow-up analysis;Rheumatology;2024-06-04
2. FHL1 promotes chikungunya and o’nyong-nyong virus infection and pathogenesis with implications for alphavirus vaccine design;Nature Communications;2023-10-26
3. Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients;Journal of Human Genetics;2023-03-03
4. Autoantibodies against four-and-a-half-LIM domain 1 (FHL1) in inflammatory myopathies: results from an Australian single-centre cohort;Rheumatology;2022-01-12
5. Reducing body myopathy associated with the LIM2 p.(His123Arg) FHL1 variant;Clinical Neurology and Neurosurgery;2021-08
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