Published in Neuromuscul Disord on October 01, 2012
Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross sectional study. PLoS One (2014) 1.07
Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle. Magn Reson Med (2013) 1.05
Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort. Ann Neurol (2016) 0.96
ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med (2002) 31.79
Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell (1987) 20.27
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol (2009) 8.42
The 6-minute walk: a new measure of exercise capacity in patients with chronic heart failure. Can Med Assoc J (1985) 8.06
Reference equations for the six-minute walk in healthy adults. Am J Respir Crit Care Med (1998) 6.10
Three-point Dixon technique for true water/fat decomposition with B0 inhomogeneity correction. Magn Reson Med (1991) 5.06
Musculoskeletal MRI at 3.0 T: relaxation times and image contrast. AJR Am J Roentgenol (2004) 2.94
The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve (2010) 2.78
Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl J Med (1989) 2.19
Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve (1981) 2.06
Three-point technique of fat quantification of muscle tissue as a marker of disease progression in Duchenne muscular dystrophy: preliminary study. AJR Am J Roentgenol (2008) 2.05
The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations. Muscle Nerve (2010) 1.93
Characterization of alterations in diabetic myocardial tissue using high resolution MRI. Int J Cardiovasc Imaging (2005) 1.78
Muscular dystrophy in girls with X;autosome translocations. J Med Genet (1986) 1.78
The manifesting carrier in Duchenne muscular dystrophy. Clin Genet (1974) 1.71
Compositional analysis of muscle in boys with Duchenne muscular dystrophy using MR imaging. Skeletal Radiol (2004) 1.67
T2 quantitation of articular cartilage at 1.5 T. J Magn Reson Imaging (2003) 1.60
Images in cardiovascular medicine. Cardiomyopathy in a Duchenne muscular dystrophy carrier and her diseased son: similar pattern revealed by cardiovascular MRI. Circulation (2010) 1.47
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (1999) 1.46
Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord (2009) 1.30
Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy. Neuromuscul Disord (2011) 1.27
Age-related differences in lower-limb muscle cross-sectional area and torque production in boys with Duchenne muscular dystrophy. Arch Phys Med Rehabil (2010) 1.24
MR measurements of muscle damage and adaptation after eccentric exercise. J Appl Physiol (1985) (1999) 1.21
Changes in muscle T2 and tissue damage after downhill running in mdx mice. Muscle Nerve (2011) 1.13
Different effects of exercise and edema on T2 relaxation in skeletal muscle. Magn Reson Med (1997) 1.12
Comparative MRI analysis of T2 changes associated with single and repeated bouts of downhill running leading to eccentric-induced muscle damage. J Appl Physiol (1985) (2008) 1.11
Changes in muscle strength in women following the menopause: a longitudinal assessment of the efficacy of hormone replacement therapy. Clin Sci (Lond) (1999) 1.05
Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord (2001) 1.04
Quantification of fat infiltration in oculopharyngeal muscular dystrophy: comparison of three MR imaging methods. J Magn Reson Imaging (2011) 1.03
Spectral quantitation by principal component analysis using complex singular value decomposition. Magn Reson Med (1999) 1.02
Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy. Neuromuscul Disord (2007) 1.02
A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. Clin Genet (1989) 1.02
Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection. Muscle Nerve (1985) 0.98
Relaxation times of skeletal muscle metabolites at 7T. J Magn Reson Imaging (2009) 0.96
Cardiac involvement in a female carrier of Duchenne muscular dystrophy. Int J Cardiol (2008) 0.91
Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Med J (2011) 0.86
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. Pediatr Neurol (2008) 0.84
Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis. J Korean Med Sci (2011) 0.83
Effects of age and limb dominance on upper and lower limb muscle function in healthy males and females aged 40-80 years. J Sports Sci (2010) 0.82
Duchenne muscular dystrophy carriers. Proton spin-lattice relaxation times of skeletal muscles on magnetic resonance imaging. Neuroradiology (1989) 0.81
Manifesting carrier of x-linked Duchenne muscular dystrophy. J Neurol Sci (1981) 0.78
Matrix elasticity directs stem cell lineage specification. Cell (2006) 43.00
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther (2008) 8.83
Human mesenchymal stem cells differentiate to a cardiomyocyte phenotype in the adult murine heart. Circulation (2002) 7.97
Myotubes differentiate optimally on substrates with tissue-like stiffness: pathological implications for soft or stiff microenvironments. J Cell Biol (2004) 7.38
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A (2008) 7.16
PTC124 targets genetic disorders caused by nonsense mutations. Nature (2007) 6.67
Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors. Methods (2002) 5.30
The mechanism of myosin VI translocation and its load-induced anchoring. Cell (2004) 3.85
Adult hematopoietic stem cells provide functional hemangioblast activity during retinal neovascularization. Nat Med (2002) 3.81
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol (2011) 3.79
Mesenchymal stem cell injection after myocardial infarction improves myocardial compliance. Am J Physiol Heart Circ Physiol (2006) 3.78
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol (2009) 3.69
A structural state of the myosin V motor without bound nucleotide. Nature (2003) 3.63
Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo. Circ Res (2006) 3.63
Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy. Proc Natl Acad Sci U S A (2009) 3.58
Three myosin V structures delineate essential features of chemo-mechanical transduction. EMBO J (2004) 3.21
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther (2009) 3.07
Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03
Role of the lever arm in the processive stepping of myosin V. Proc Natl Acad Sci U S A (2002) 2.86
Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice. J Cell Biol (2002) 2.76
Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med (2009) 2.57
The structure of the myosin VI motor reveals the mechanism of directionality reversal. Nature (2005) 2.50
A model of myosin V processivity. J Biol Chem (2004) 2.49
Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat Med (2008) 2.49
Myostatin activation in patients with advanced heart failure and after mechanical unloading. Eur J Heart Fail (2010) 2.40
A force-dependent state controls the coordination of processive myosin V. Proc Natl Acad Sci U S A (2005) 2.39
Myosin VI steps via a hand-over-hand mechanism with its lever arm undergoing fluctuations when attached to actin. J Biol Chem (2004) 2.31
Effects of experimental weight perturbation on skeletal muscle work efficiency in human subjects. Am J Physiol Regul Integr Comp Physiol (2003) 2.28
Adeno-associated virus (AAV) serotype 9 provides global cardiac gene transfer superior to AAV1, AAV6, AAV7, and AAV8 in the mouse and rat. Hum Gene Ther (2008) 2.27
Early quadriceps strength loss after total knee arthroplasty. The contributions of muscle atrophy and failure of voluntary muscle activation. J Bone Joint Surg Am (2005) 2.26
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord (2007) 2.17
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med (2011) 2.08
Ambulatory continuous femoral nerve blocks decrease time to discharge readiness after tricompartment total knee arthroplasty: a randomized, triple-masked, placebo-controlled study. Anesthesiology (2008) 2.07
Blue cohosh and perinatal stroke. N Engl J Med (2004) 2.05
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol (2010) 2.02
The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve (2014) 2.02
Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol (2007) 2.01
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat (2009) 1.88
Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults. Hum Gene Ther (2006) 1.83
Neovasculogenic therapy to augment perfusion and preserve viability in ischemic cardiomyopathy. Ann Thorac Surg (2006) 1.82
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med (2002) 1.82
Full-length myosin VI dimerizes and moves processively along actin filaments upon monomer clustering. Mol Cell (2006) 1.80
A flexible domain is essential for the large step size and processivity of myosin VI. Mol Cell (2005) 1.78
Total elbow arthroplasty as an outpatient procedure using a continuous infraclavicular nerve block at home: a prospective case report. Reg Anesth Pain Med (2006) 1.67
Neural deficits contribute to respiratory insufficiency in Pompe disease. Proc Natl Acad Sci U S A (2009) 1.67
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol (2013) 1.63
Cardiac and clinical phenotype in Barth syndrome. Pediatrics (2006) 1.61
The structural basis for the large powerstroke of myosin VI. Cell (2007) 1.56
Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults. Hum Gene Ther (2004) 1.54
Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012. Hum Gene Ther (2013) 1.54
LateTIME: a phase-II, randomized, double-blinded, placebo-controlled, pilot trial evaluating the safety and effect of administration of bone marrow mononuclear cells 2 to 3 weeks after acute myocardial infarction. Tex Heart Inst J (2010) 1.52
Characterization of a recombinant adeno-associated virus type 2 Reference Standard Material. Hum Gene Ther (2010) 1.51
Kinetic characterization of the weak binding states of myosin V. Biochemistry (2002) 1.46
Myosin IIb is unconventionally conventional. J Biol Chem (2003) 1.45
Interhead distance measurements in myosin VI via SHRImP support a simplified hand-over-hand model. Biophys J (2005) 1.43
Ambulatory continuous posterior lumbar plexus nerve blocks after hip arthroplasty: a dual-center, randomized, triple-masked, placebo-controlled trial. Anesthesiology (2008) 1.42
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther (2011) 1.42
Myosin VI dimerization triggers an unfolding of a three-helix bundle in order to extend its reach. Mol Cell (2009) 1.42
Magnesium regulates ADP dissociation from myosin V. J Biol Chem (2004) 1.42
Kinetic mechanism of blebbistatin inhibition of nonmuscle myosin IIb. Biochemistry (2004) 1.40
Viral expression of insulin-like growth factor-I enhances muscle hypertrophy in resistance-trained rats. J Appl Physiol (1985) (2004) 1.40
Serial casting for the management of ankle contracture in Duchenne muscular dystrophy. Pediatr Phys Ther (2011) 1.38
The unique insert in myosin VI is a structural calcium-calmodulin binding site. Proc Natl Acad Sci U S A (2004) 1.38
Cardiac overexpression of angiotensin converting enzyme 2 protects the heart from ischemia-induced pathophysiology. Hypertension (2008) 1.37
Transcriptional pathways associated with skeletal muscle disuse atrophy in humans. Physiol Genomics (2007) 1.35
Cargo binding induces dimerization of myosin VI. Proc Natl Acad Sci U S A (2009) 1.34
Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology (2012) 1.31
Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors. Mol Ther (2007) 1.31
Ambulatory continuous interscalene nerve blocks decrease the time to discharge readiness after total shoulder arthroplasty: a randomized, triple-masked, placebo-controlled study. Anesthesiology (2006) 1.31
The unique insert at the end of the myosin VI motor is the sole determinant of directionality. Proc Natl Acad Sci U S A (2007) 1.30
Successful production of pseudotyped rAAV vectors using a modified baculovirus expression system. Mol Ther (2005) 1.30
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Improved method of recombinant AAV2 delivery for systemic targeted gene therapy. Mol Ther (2002) 1.29
Patterning, prestress, and peeling dynamics of myocytes. Biophys J (2004) 1.29
Functional role of loop 2 in myosin V. Biochemistry (2004) 1.29
Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy. Neuromuscul Disord (2011) 1.27
Rescue of dystrophic skeletal muscle by PGC-1α involves a fast to slow fiber type shift in the mdx mouse. PLoS One (2012) 1.26
Large-scale adeno-associated viral vector production using a herpesvirus-based system enables manufacturing for clinical studies. Hum Gene Ther (2009) 1.26
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol (2012) 1.25
Age-related differences in lower-limb muscle cross-sectional area and torque production in boys with Duchenne muscular dystrophy. Arch Phys Med Rehabil (2010) 1.24
Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord (2010) 1.24
Myosin Va and myosin VI coordinate their steps while engaged in an in vitro tug of war during cargo transport. Proc Natl Acad Sci U S A (2011) 1.23
Myosin VI undergoes a 180 degrees power stroke implying an uncoupling of the front lever arm. Proc Natl Acad Sci U S A (2009) 1.23
Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy. Radiology (2013) 1.22