Published in Eur J Heart Fail on February 20, 2009
Early treatment with lisinopril and spironolactone preserves cardiac and skeletal muscle in Duchenne muscular dystrophy mice. Circulation (2011) 2.06
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Losartan decreases cardiac muscle fibrosis and improves cardiac function in dystrophin-deficient mdx mice. J Cardiovasc Pharmacol Ther (2011) 1.28
VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects. EMBO Mol Med (2013) 1.22
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Glucocorticoid-treated mice are an inappropriate positive control for long-term preclinical studies in the mdx mouse. PLoS One (2012) 1.10
Sulforaphane Attenuates Muscle Inflammation in Dystrophin-deficient mdx Mice via NF-E2-related Factor 2 (Nrf2)-mediated Inhibition of NF-κB Signaling Pathway. J Biol Chem (2015) 1.05
Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy. Int J Exp Pathol (2010) 1.05
Prednisolone attenuates improvement of cardiac and skeletal contractile function and histopathology by lisinopril and spironolactone in the mdx mouse model of Duchenne muscular dystrophy. PLoS One (2014) 1.01
Gender influences cardiac function in the mdx model of Duchenne cardiomyopathy. Muscle Nerve (2010) 0.99
Enalapril treatment discloses an early role of angiotensin II in inflammation- and oxidative stress-related muscle damage in dystrophic mdx mice. Pharmacol Res (2011) 0.96
Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle. Am J Pathol (2010) 0.91
Effects of steroids and angiotensin converting enzyme inhibition on circumferential strain in boys with Duchenne muscular dystrophy: a cross-sectional and longitudinal study utilizing cardiovascular magnetic resonance. J Cardiovasc Magn Reson (2011) 0.88
Beta-blockers, left and right ventricular function, and in-vivo calcium influx in muscular dystrophy cardiomyopathy. PLoS One (2013) 0.84
Vascular-targeted therapies for Duchenne muscular dystrophy. Skelet Muscle (2013) 0.80
Mineralocorticoid receptors are present in skeletal muscle and represent a potential therapeutic target. FASEB J (2015) 0.80
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy. PLoS One (2015) 0.79
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene. Hum Mol Genet (2016) 0.78
Prednisolone treatment does not interfere with 2'-O-methyl phosphorothioate antisense-mediated exon skipping in Duchenne muscular dystrophy. Hum Gene Ther (2012) 0.77
Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents. Appl Clin Genet (2011) 0.75
Left Ventricular Tonic Contraction as a Novel Biomarker of Cardiomyopathy in Duchenne Muscular Dystrophy. Pediatr Cardiol (2015) 0.75
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord (2002) 3.52
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain (2009) 2.38
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord (2007) 1.80
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Effect of the Asp298 variant of endothelial nitric oxide synthase on survival for patients with congestive heart failure. Circulation (2003) 1.78
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Cardiac structure and function are altered in adults with non-alcoholic fatty liver disease. J Hepatol (2012) 1.70
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. Cardiovasc Res (2009) 1.67
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet (2010) 1.62
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet (2008) 1.49
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet (2002) 1.46
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol (2003) 1.44
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
Limb-girdle muscular dystrophies. Curr Opin Neurol (2008) 1.42
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem (2007) 1.37
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet (2009) 1.37
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J (2007) 1.34
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord (2010) 1.34
Left ventricular and myocardial function in mice expressing constitutively pseudophosphorylated cardiac troponin I. Circ Res (2009) 1.33
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol (2011) 1.32
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol (2002) 1.30
New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry (2009) 1.28
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord (2010) 1.24
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve (2010) 1.21
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat (2003) 1.20
Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve (2013) 1.20
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol (2004) 1.20
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.19
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain (2011) 1.17
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat (2010) 1.17
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet (2003) 1.17
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol (2004) 1.17
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One (2013) 1.16
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord (2002) 1.15
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. Eur J Hum Genet (2005) 1.15
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat (2012) 1.15
Pharmacogenetic interactions between angiotensin-converting enzyme inhibitor therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure. J Am Coll Cardiol (2004) 1.14
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet (2005) 1.14
MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise. J Magn Reson Imaging (2009) 1.13
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet (2008) 1.12
Interventions for muscular dystrophy: molecular medicines entering the clinic. Lancet (2009) 1.10
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis (2013) 1.09
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. Neuromuscul Disord (2004) 1.09
157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord (2008) 1.08
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain (2008) 1.07
The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol (2006) 1.05
Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months. Muscle Nerve (2013) 1.05
Molecular treatments in Duchenne muscular dystrophy. Curr Opin Pharmacol (2010) 1.04
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun (2002) 1.03
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. Neuromuscul Disord (2012) 1.02
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet (2012) 1.02
Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1-2 October 2009, Paris, France. Neuromuscul Disord (2012) 1.01