Published in Neuromuscul Disord on June 23, 2009
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. PLoS One (2014) 2.43
Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. Clin Investig (Lond) (2011) 1.84
The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve (2013) 1.48
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myol (2012) 1.31
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology (2012) 1.17
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
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
Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients. Hum Mol Genet (2014) 1.05
Muscle fat-fraction and mapping in Duchenne muscular dystrophy: evaluation of disease distribution and correlation with clinical assessments. Preliminary experience. Skeletal Radiol (2011) 1.02
Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting. Pediatr Neurol (2014) 1.01
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
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures. BMC Neurol (2012) 0.90
Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve (2013) 0.89
Circulating Muscle-specific miRNAs in Duchenne Muscular Dystrophy Patients. Mol Ther Nucleic Acids (2014) 0.87
Quantitative muscle ultrasound in Duchenne muscular dystrophy: a comparison of techniques. Muscle Nerve (2014) 0.86
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys. PLoS Curr (2014) 0.86
Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment. Pediatr Neurol (2014) 0.85
Clinical utility of serum biomarkers in Duchenne muscular dystrophy. Clin Proteomics (2016) 0.82
The role of the neuromuscular medicine and physiatry specialists in the multidisciplinary management of neuromuscular disease. Phys Med Rehabil Clin N Am (2012) 0.82
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. J Neurol Neurosurg Psychiatry (2015) 0.80
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study. Neuromuscul Disord (2016) 0.75
Duchenne Regulatory Science Consortium Meeting on Disease Progression Modeling for Duchenne Muscular Dystrophy. PLoS Curr (2017) 0.75
Identification of serum protein biomarkers for utrophin based DMD therapy. Sci Rep (2017) 0.75
Being ambulatory does not secure respiratory functions of Duchenne patients. Ann Indian Acad Neurol (2011) 0.75
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. Sci Rep (2016) 0.75
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy. PLoS One (2016) 0.75
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. PLoS One (2017) 0.75
Can Quantitative Muscle Strength and Functional Motor Ability Differentiate the Influence of Age and Corticosteroids in Ambulatory Boys with Duchenne Muscular Dystrophy? PLoS Curr (2016) 0.75
Treatment with L-citrulline and metformin in Duchenne muscular dystrophy: study protocol for a single-centre, randomised, placebo-controlled trial. Trials (2016) 0.75
Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis. J Ultrasound Med (2016) 0.75
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet (2001) 5.09
Induction of c-fos-like protein in spinal cord neurons following sensory stimulation. Nature (1987) 4.59
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
Activation of microglial cells by beta-amyloid protein and interferon-gamma. Nature (1995) 4.18
Comparison of MRI criteria at first presentation to predict conversion to clinically definite multiple sclerosis. Brain (1997) 3.87
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med (1999) 3.76
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature (1989) 3.75
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology (2010) 3.37
250 microg or 500 microg interferon beta-1b versus 20 mg glatiramer acetate in relapsing-remitting multiple sclerosis: a prospective, randomised, multicentre study. Lancet Neurol (2009) 3.37
The O2- -forming NADPH oxidase of the phagocytes: nature, mechanisms of activation and function. Biochim Biophys Acta (1986) 3.32
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
Phagocytosing neutrophils produce and release high amounts of the neutrophil-activating peptide 1/interleukin 8. J Exp Med (1991) 2.96
Paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients: P wave duration and dispersion analysis. Eur Rev Med Pharmacol Sci (2015) 2.86
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci U S A (1992) 2.82
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
The development, maturation, and turnover rate of mouse spleen dendritic cell populations. J Immunol (2000) 2.76
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet (1998) 2.72
White matter damage in Alzheimer's disease assessed in vivo using diffusion tensor magnetic resonance imaging. J Neurol Neurosurg Psychiatry (2002) 2.72
Electronic nose analysis of urine samples containing blood. Physiol Meas (1999) 2.68
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet (2001) 2.66
Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet (1995) 2.53
Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta (2004) 2.52
Evaluation of three-dimensional finite element-based deformable registration of pre- and intraoperative prostate imaging. Med Phys (2001) 2.50
MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol (1992) 2.48
RelB is essential for the development of myeloid-related CD8alpha- dendritic cells but not of lymphoid-related CD8alpha+ dendritic cells. Immunity (1998) 2.42
Coding sequence and growth regulation of the human vimentin gene. Mol Cell Biol (1986) 2.34
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science (1973) 2.34
Fingerprint body myopathy, a newly recognized congenital muscle disease. Mayo Clin Proc (1972) 2.34
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol (1990) 2.29
Enzymatic basis of metabolic stimulation in leucocytes during phagocytosis: the role of activated NADPH oxidase. Arch Biochem Biophys (1971) 2.27
Diffusion tensor magnetic resonance imaging in multiple sclerosis. Neurology (2001) 2.24
Low-frequency positive-pressure ventilation with extracorporeal CO2 removal in severe acute respiratory failure. JAMA (1986) 2.24
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet (1996) 2.22
Color M-mode Doppler flow propagation velocity is a preload insensitive index of left ventricular relaxation: animal and human validation. J Am Coll Cardiol (2000) 2.13
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Thiophosphorylation of U1-70K protein inhibits pre-mRNA splicing. Nature (1993) 2.09
Integration of transbronchial and percutaneous approach in the diagnosis of peripheral pulmonary nodules or masses. Experience with 1,027 consecutive cases. Chest (1995) 2.06
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
Role of alpha1 acid glycoprotein in the in vivo resistance of human BCR-ABL(+) leukemic cells to the abl inhibitor STI571. J Natl Cancer Inst (2000) 2.06
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 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
Similar low frequency of anti-MOG IgG and IgM in MS patients and healthy subjects. Neurology (2004) 2.04
Default-mode network dysfunction and cognitive impairment in progressive MS. Neurology (2010) 2.03
Quality of life in multiple sclerosis: the impact of depression, fatigue and disability. Mult Scler (2001) 2.03
The neutrophil-activating protein (HP-NAP) of Helicobacter pylori is a protective antigen and a major virulence factor. J Exp Med (2000) 2.02
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00
Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy. Ann Neurol (2001) 2.00
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology (2007) 1.93