Published in Expert Opin Emerg Drugs on June 01, 2012
Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy | NCT01207908
Study of Ataluren (PTC124®) in Hemophilia A and B | NCT00947193
miR-29 targets Akt3 to reduce proliferation and facilitate differentiation of myoblasts in skeletal muscle development. Cell Death Dis (2013) 1.26
A new therapeutic effect of simvastatin revealed by functional improvement in muscular dystrophy. Proc Natl Acad Sci U S A (2015) 1.04
Myostatin inhibitors as therapies for muscle wasting associated with cancer and other disorders. Curr Opin Support Palliat Care (2013) 0.96
Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits. PLoS Curr (2014) 0.93
AAV-mediated overexpression of human α7 integrin leads to histological and functional improvement in dystrophic mice. Mol Ther (2013) 0.92
Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options. Ther Clin Risk Manag (2015) 0.91
Upper extremity 3-dimensional reachable workspace analysis in dystrophinopathy using Kinect. Muscle Nerve (2015) 0.90
Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy. Hum Mol Genet (2014) 0.88
Pharmacologic management of Duchenne muscular dystrophy: target identification and preclinical trials. ILAR J (2014) 0.88
Redox Characterization of Functioning Skeletal Muscle. Front Physiol (2015) 0.86
Myofiber-specific inhibition of TGFβ signaling protects skeletal muscle from injury and dystrophic disease in mice. Hum Mol Genet (2014) 0.85
Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy. Physiol Rev (2016) 0.85
Current and emerging treatment strategies for Duchenne muscular dystrophy. Neuropsychiatr Dis Treat (2016) 0.83
Glucocorticoids enhance muscle endurance and ameliorate Duchenne muscular dystrophy through a defined metabolic program. Proc Natl Acad Sci U S A (2015) 0.82
Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy. J Neuromuscul Dis (2015) 0.80
Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials. Am J Transl Res (2016) 0.80
High throughput screening in duchenne muscular dystrophy: from drug discovery to functional genomics. Biology (Basel) (2014) 0.75
Dystrophic Cardiomyopathy-Potential Role of Calcium in Pathogenesis, Treatment and Novel Therapies. Genes (Basel) (2017) 0.75
Human immunoglobulin G for experimental treatment of Duchenne muscular dystrophy. Clin Exp Immunol (2014) 0.75
Computer task performance by subjects with Duchenne muscular dystrophy. Neuropsychiatr Dis Treat (2015) 0.75
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia. Neuromuscul Disord (2013) 0.75
Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy. Expert Opin Orphan Drugs (2016) 0.75
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell (1987) 16.01
Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. Nature (1997) 14.82
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res (1988) 9.94
Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med (2004) 7.80
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
STREPTOMYCIN, SUPPRESSION, AND THE CODE. Proc Natl Acad Sci U S A (1964) 7.10
PTC124 targets genetic disorders caused by nonsense mutations. Nature (2007) 6.67
Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med (2011) 5.91
Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. Nature (2006) 5.83
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
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med (2007) 5.25
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet (1990) 5.16
Functional improvement of dystrophic muscle by myostatin blockade. Nature (2002) 5.10
Dystrophin immunity in Duchenne's muscular dystrophy. N Engl J Med (2010) 4.28
Mast cells as a source of both preformed and immunologically inducible TNF-alpha/cachectin. Nature (1990) 4.21
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature (1990) 3.84
Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A (2007) 3.72
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57
Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord (2002) 3.52
Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol (2003) 3.46
A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. J Cell Biol (2001) 3.41
Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med (1989) 3.32
Expression of full-length utrophin prevents muscular dystrophy in mdx mice. Nat Med (1998) 3.27
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest (1999) 3.06
Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol (2009) 3.01
Interplay of IKK/NF-kappaB signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy. J Clin Invest (2007) 2.99
MicroRNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway. Cell Metab (2010) 2.99
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Sarcolemma-localized nNOS is required to maintain activity after mild exercise. Nature (2008) 2.87
Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol (2012) 2.77
Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice. J Cell Biol (2002) 2.76
Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci U S A (2001) 2.71
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. Proc Natl Acad Sci U S A (2000) 2.49
Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors. Proc Natl Acad Sci U S A (2008) 2.31
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol (2001) 2.29
Lack of myostatin results in excessive muscle growth but impaired force generation. Proc Natl Acad Sci U S A (2007) 2.25
Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group. Neurology (1991) 2.16
Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol (2007) 2.16
Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet (2003) 2.07
Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy. Proc Natl Acad Sci U S A (1996) 2.06
Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine. J Clin Invest (1995) 2.06
Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve (1983) 1.99
Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord (2006) 1.99
Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy. Neurology (2011) 1.86
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol (2010) 1.81
Factors associated with treatment response to etanercept in juvenile idiopathic arthritis. JAMA (2011) 1.80
Functional resolution of fibrosis in mdx mouse dystrophic heart and skeletal muscle by halofuginone. Am J Physiol Heart Circ Physiol (2008) 1.79
Regulation of muscle mass by follistatin and activins. Mol Endocrinol (2010) 1.79
Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol (1991) 1.78
Administration of a soluble activin type IIB receptor promotes skeletal muscle growth independent of fiber type. J Appl Physiol (1985) (2010) 1.76
Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and azathioprine (12 months) Neurology (1993) 1.75
Nitric oxide release combined with nonsteroidal antiinflammatory activity prevents muscular dystrophy pathology and enhances stem cell therapy. Proc Natl Acad Sci U S A (2006) 1.69
Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007. MMWR Morb Mortal Wkly Rep (2009) 1.68
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J (2011) 1.63
The role of free radicals in the pathophysiology of muscular dystrophy. J Appl Physiol (1985) (2006) 1.62
N-Acetylcysteine ameliorates skeletal muscle pathophysiology in mdx mice. J Physiol (2008) 1.60
Primary role of functional ischemia, quantitative evidence for the two-hit mechanism, and phosphodiesterase-5 inhibitor therapy in mouse muscular dystrophy. PLoS One (2007) 1.60
Reduced necrosis of dystrophic muscle by depletion of host neutrophils, or blocking TNFalpha function with Etanercept in mdx mice. Neuromuscul Disord (2006) 1.57
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A (2005) 1.54
Improved contractile function of the mdx dystrophic mouse diaphragm muscle after insulin-like growth factor-I administration. Am J Pathol (2002) 1.48
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol (2003) 1.48
Prevention of pathology in mdx mice by expression of utrophin: analysis using an inducible transgenic expression system. Hum Mol Genet (2002) 1.47
Anti-TNFalpha (Remicade) therapy protects dystrophic skeletal muscle from necrosis. FASEB J (2004) 1.44
Role of ribosomes in streptomycin-activated suppression. Proc Natl Acad Sci U S A (1965) 1.42
Nuclear factor kappa-B blockade reduces skeletal muscle degeneration and enhances muscle function in Mdx mice. Exp Neurol (2006) 1.39
Heregulin ameliorates the dystrophic phenotype in mdx mice. Proc Natl Acad Sci U S A (2004) 1.38
Golgi and sarcolemmal neuronal NOS differentially regulate contraction-induced fatigue and vasoconstriction in exercising mouse skeletal muscle. J Clin Invest (2010) 1.37
Localization and early time course of TGF-beta 1 mRNA expression in dystrophic muscle. Muscle Nerve (2004) 1.37
Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease. Muscle Nerve (2009) 1.34
Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. Mol Ther (2009) 1.31
Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation. J Neuropathol Exp Neurol (2009) 1.31
Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet (2005) 1.30
Imatinib attenuates skeletal muscle dystrophy in mdx mice. FASEB J (2009) 1.30
Corticosteroid treatment and functional improvement in Duchenne muscular dystrophy: long-term effect. Am J Phys Med Rehabil (2005) 1.29
IGF-I treatment improves the functional properties of fast- and slow-twitch skeletal muscles from dystrophic mice. Neuromuscul Disord (2001) 1.29
Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One (2011) 1.29
Skeletal muscle NADPH oxidase is increased and triggers stretch-induced damage in the mdx mouse. PLoS One (2010) 1.29
Sildenafil and cardiomyocyte-specific cGMP signaling prevent cardiomyopathic changes associated with dystrophin deficiency. Proc Natl Acad Sci U S A (2008) 1.29
Losartan decreases cardiac muscle fibrosis and improves cardiac function in dystrophin-deficient mdx mice. J Cardiovasc Pharmacol Ther (2011) 1.28
Duchenne muscular dystrophy: functional ischemia reproduces its characteristic lesions. Science (1971) 1.26
Retracted Follistatin induction by nitric oxide through cyclic GMP: a tightly regulated signaling pathway that controls myoblast fusion. J Cell Biol (2006) 1.25
Biglycan recruits utrophin to the sarcolemma and counters dystrophic pathology in mdx mice. Proc Natl Acad Sci U S A (2010) 1.24
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet (1995) 1.23
Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology (2007) 1.21
Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development. BioDrugs (2009) 1.21
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet (1992) 1.20
Clinical uses of melatonin: evaluation of human trials. Curr Med Chem (2010) 1.17
Prevention of muscle fibrosis and improvement in muscle performance in the mdx mouse by halofuginone. Neuromuscul Disord (2008) 1.15
A nitric oxide/cysteine interaction mediates the activation of soluble guanylate cyclase. Proc Natl Acad Sci U S A (2009) 1.14
Glucocorticoids induce proteasome C3 subunit expression in L6 muscle cells by opposing the suppression of its transcription by NF-kappa B. J Biol Chem (2000) 1.13
Green tea extract and its major polyphenol (-)-epigallocatechin gallate improve muscle function in a mouse model for Duchenne muscular dystrophy. Am J Physiol Cell Physiol (2006) 1.11
Long-term blinded placebo-controlled study of SNT-MC17/idebenone in the dystrophin deficient mdx mouse: cardiac protection and improved exercise performance. Eur Heart J (2008) 1.11
Etanercept treatment for children and adolescents with plaque psoriasis. N Engl J Med (2008) 1.10
Peptide-based inhibition of NF-κB rescues diaphragm muscle contractile dysfunction in a murine model of Duchenne muscular dystrophy. Mol Med (2011) 1.09
Targeted expression of insulin-like growth factor-I reduces early myofiber necrosis in dystrophic mdx mice. Mol Ther (2004) 1.08
Halofuginone, an inhibitor of type-I collagen synthesis and skin sclerosis, blocks transforming-growth-factor-beta-mediated Smad3 activation in fibroblasts. J Invest Dermatol (2002) 1.08
Skeletal muscle diseases, inflammation, and NF-kappaB signaling: insights and opportunities for therapeutic intervention. Int Rev Immunol (2008) 1.07
Exacerbation of pathology by oxidative stress in respiratory and locomotor muscles with Duchenne muscular dystrophy. J Physiol (2011) 1.05
Role of tumour necrosis factor alpha, but not of cyclo-oxygenase-2-derived eicosanoids, on functional and morphological indices of dystrophic progression in mdx mice: a pharmacological approach. Neuropathol Appl Neurobiol (2007) 1.02
Therapeutic microRNA delivery suppresses tumorigenesis in a murine liver cancer model. Cell (2009) 11.10
Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol (2013) 4.57
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol (2009) 3.69
Astrocytes from familial and sporadic ALS patients are toxic to motor neurons. Nat Biotechnol (2011) 3.45
Essential metabolic, anti-inflammatory, and anti-tumorigenic functions of miR-122 in liver. J Clin Invest (2012) 3.14
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors. Proc Natl Acad Sci U S A (2008) 2.31
Follistatin gene delivery enhances muscle growth and strength in nonhuman primates. Sci Transl Med (2009) 2.21
Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther (2011) 2.20
Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet (2003) 2.07
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol (2010) 2.02
Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell (2002) 2.01
Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2006) 1.97
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat (2009) 1.88
A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy. J Transl Med (2007) 1.86
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol (2010) 1.81
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circ Cardiovasc Genet (2009) 1.80
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol (2013) 1.63
Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol (2006) 1.59
Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular delivery. Mol Ther (2009) 1.35
Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease. Muscle Nerve (2009) 1.34
Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord (2010) 1.24
Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther (2013) 1.16
Overexpression of Galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice. Am J Physiol Cell Physiol (2008) 1.16
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat (2011) 1.13
Novel diagnostic features of dysferlinopathies. Muscle Nerve (2010) 1.12
Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. PLoS One (2012) 1.10
Peptide-based inhibition of NF-κB rescues diaphragm muscle contractile dysfunction in a murine model of Duchenne muscular dystrophy. Mol Med (2011) 1.09
Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect. Hum Gene Ther (2013) 1.06
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. Hum Mutat (2005) 1.03
Update on the treatment of Duchenne muscular dystrophy. Curr Neurol Neurosci Rep (2013) 1.02
RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy. Mol Ther (2012) 1.00
AAV-mediated gene therapy to the isolated limb in rhesus macaques. Methods Mol Biol (2011) 0.98
Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophy. Am J Cardiol (2012) 0.98
mdx(⁵cv) mice manifest more severe muscle dysfunction and diaphragm force deficits than do mdx Mice. Am J Pathol (2011) 0.96
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Hum Mutat (2011) 0.96
An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle Nerve (2009) 0.96
Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol (2008) 0.94
Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. Ther Adv Neurol Disord (2010) 0.93
Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord (2013) 0.93
Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat (2004) 0.92
AAV-mediated overexpression of human α7 integrin leads to histological and functional improvement in dystrophic mice. Mol Ther (2013) 0.92
Autistic disorder in 2 children with mitochondrial disorders. J Child Neurol (2007) 0.91
Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I. J Cardiovasc Magn Reson (2011) 0.91
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics (2012) 0.91
Cardiac management in neuromuscular diseases. Phys Med Rehabil Clin N Am (2012) 0.90
Utility of cystatin C to monitor renal function in Duchenne muscular dystrophy. Muscle Nerve (2009) 0.89
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. Genet Test Mol Biomarkers (2010) 0.88
Micro-dystrophin and follistatin co-delivery restores muscle function in aged DMD model. Hum Mol Genet (2013) 0.88
Semaphorin 5A is a bifunctional axon guidance cue for axial motoneurons in vivo. Dev Biol (2008) 0.88
Proof of concept of the ability of the kinect to quantify upper extremity function in dystrophinopathy. PLoS Curr (2013) 0.87
Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy. Muscle Nerve (2015) 0.86
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med (Berl) (2008) 0.86
Spinal angiography and epidural venography in juvenile muscular atrophy of the distal arm "Hirayama disease". Muscle Nerve (2009) 0.86
Gene therapy for duchenne muscular dystrophy: expectations and challenges. Arch Neurol (2007) 0.86
Casein kinase 1 alpha associates with the tau-bearing lesions of inclusion body myositis. Neurosci Lett (2007) 0.84
Molecular therapeutic strategies targeting Duchenne muscular dystrophy. J Child Neurol (2010) 0.83
Risks, benefits, and consent in the age of gene therapy. Neurology (2006) 0.83
Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation. Muscle Nerve (2013) 0.82
Knee extensor strength exhibits potential to predict function in sporadic inclusion-body myositis. Muscle Nerve (2012) 0.81
The limb girdle muscular dystrophies: our ever-expanding knowledge. J Clin Neuromuscul Dis (2003) 0.80
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. Ann Neurol (2015) 0.80
Dexmedetomidine and ketamine sedation for muscle biopsies in patients with Duchenne muscular dystrophy. Paediatr Anaesth (2014) 0.80
Correlation of knee strength to functional outcomes in Becker muscular dystrophy. Muscle Nerve (2013) 0.79
Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage. J Child Neurol (2008) 0.78
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. J Hum Genet (2011) 0.78
Duchenne muscular dystrophy: ethical and emotional considerations in long-term management. Semin Neurol (1984) 0.77
Could gene therapy be the future for muscular dystrophy? Therapy (2010) 0.77
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab (2013) 0.76
The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approaches. Curr Rheumatol Rep (2011) 0.76
Precordial R wave height does not correlate with echocardiographic findings in boys with Duchenne muscular dystrophy. Congenit Heart Dis (2013) 0.76
Perspectives on best practices for gene therapy programs. Hum Gene Ther (2015) 0.76
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. J Child Neurol (2009) 0.76
Lambert-Eaton myasthenic syndrome in children. J Child Neurol (2002) 0.76
Fatal group a streptococcal necrotizing myopathy. J Clin Neuromuscul Dis (2002) 0.75
Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med (2015) 0.75
Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med (2015) 0.75
Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level. J Child Neurol (2002) 0.75
Obituary: M. Richard Koenigsberger: lifetime contributions to child neurology. Pediatr Neurol (2013) 0.75
Dermatomyositis in two siblings and a brief review of familial dermatomyositis. J Child Neurol (2002) 0.75
MicroRNA-29 overexpression by adeno-associated virus suppresses fibrosis and restores muscle function in combination with micro-dystrophin. JCI Insight (2017) 0.75