标题
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
作者
关键词
-
出版物
Nature Communications
Volume 8, Issue -, Pages 14143
出版商
Springer Nature
发表日期
2017-01-31
DOI
10.1038/ncomms14143
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genotype-Specific Interaction of Latent TGFβ Binding Protein 4 with TGFβ
- (2016) Kay-Marie Lamar et al. PLoS One
- Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study
- (2015) Luca Bello et al. ANNALS OF NEUROLOGY
- Duchenne muscular dystrophy
- (2015) Perry B. Shieh CURRENT OPINION IN NEUROLOGY
- Analysis of theACTN3heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion
- (2015) Marshall W. Hogarth et al. HUMAN MOLECULAR GENETICS
- Progress and prospects of gene therapy clinical trials for the muscular dystrophies
- (2015) Niclas E. Bengtsson et al. HUMAN MOLECULAR GENETICS
- Properties of regenerated mouse extensor digitorum longus muscle following notexin injury
- (2014) S. I. Head et al. EXPERIMENTAL PHYSIOLOGY
- Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessingSPP1andLTBP4variants
- (2014) Janneke C van den Bergen et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Evidence Based Selection of Commonly Used RT-qPCR Reference Genes for the Analysis of Mouse Skeletal Muscle
- (2014) Kristen C. Thomas et al. PLoS One
- What Can We Learn From Clinical Trials of Exon Skipping for DMD?
- (2014) Qi-long Lu et al. Molecular Therapy-Nucleic Acids
- ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling
- (2013) Jane T. Seto et al. JOURNAL OF CLINICAL INVESTIGATION
- Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way
- (2013) Nir Eynon et al. SPORTS MEDICINE
- LTBP4genotype predicts age of ambulatory loss in duchenne muscular dystrophy
- (2012) Kevin M. Flanigan et al. ANNALS OF NEUROLOGY
- Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition
- (2012) J. M. Percival et al. HUMAN MOLECULAR GENETICS
- NIH Image to ImageJ: 25 years of image analysis
- (2012) Caroline A Schneider et al. NATURE METHODS
- Metabolic remodeling agents show beneficial effects in the dystrophin-deficient mdx mouse model
- (2012) Vanessa E Jahnke et al. Skeletal Muscle
- The role of branched fibres in the pathogenesis of Duchenne muscular dystrophy
- (2011) S. Chan et al. EXPERIMENTAL PHYSIOLOGY
- Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling
- (2011) Jane T. Seto et al. HUMAN MOLECULAR GENETICS
- Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle
- (2011) V. Ljubicic et al. HUMAN MOLECULAR GENETICS
- Branched fibres in old dystrophicmdxmuscle are associated with mechanical weakening of the sarcolemma, abnormal Ca2+transients and a breakdown of Ca2+homeostasis during fatigue
- (2010) Stewart I. Head EXPERIMENTAL PHYSIOLOGY
- α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle
- (2010) Kate G.R. Quinlan et al. HUMAN MOLECULAR GENETICS
- Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and femaleActn3knockout mice
- (2010) Stephen Chan et al. MUSCLE & NERVE
- SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
- (2010) E. Pegoraro et al. NEUROLOGY
- Validation of an automated computational method for skeletal muscle fibre morphometry analysis
- (2010) Fleur Garton et al. NEUROMUSCULAR DISORDERS
- Sarcopenia of aging: Underlying cellular mechanisms and protection by calorie restriction
- (2009) Emanuele Marzetti et al. BIOFACTORS
- Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up
- (2009) Isabelle Desguerre et al. PLoS One
- Increased muscle PGC-1 expression protects from sarcopenia and metabolic disease during aging
- (2009) T. Wenz et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy
- (2009) J. E. Rooney et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A gene for speed: contractile properties of isolated whole EDL muscle from an α-actinin-3 knockout mouse
- (2008) S. Chan et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performance
- (2008) D. G. MacArthur et al. HUMAN MOLECULAR GENETICS
- Osteopontin and skeletal muscle myoblasts: Association with muscle regeneration and regulation of myoblast function in vitro
- (2008) Kitipong Uaesoontrachoon et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- ACTN3 genotype is associated with muscle phenotypes in women across the adult age span
- (2008) Sean Walsh et al. JOURNAL OF APPLIED PHYSIOLOGY
- Functional Deficits in nNOSμ-Deficient Skeletal Muscle: Myopathy in nNOS Knockout Mice
- (2008) Justin M. Percival et al. PLoS One
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search