Published in J Child Neurol on March 05, 2010
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve (2013) 2.47
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
Muscle sparing in muscle RING finger 1 null mice: response to synthetic glucocorticoids. J Physiol (2011) 1.41
Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am (2012) 0.98
Patterns of decline in upper limb function of boys and men with DMD: an international survey. J Neurol (2014) 0.97
Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? Neurology (2013) 0.97
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
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. Orphanet J Rare Dis (2015) 0.81
Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy. Neurology (2016) 0.81
Quality improvement in neurology: muscular dystrophy quality measures. Neurology (2015) 0.77
Optimizing Bone Health in Duchenne Muscular Dystrophy. Int J Endocrinol (2015) 0.76
Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents. Appl Clin Genet (2011) 0.75
Trends in steroid therapy for Duchenne muscular dystrophy in Japan. Muscle Nerve (2016) 0.75
Corticosteroid Treatment and Growth Patterns in Ambulatory Males with Duchenne Muscular Dystrophy. J Pediatr (2016) 0.75
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol (2009) 8.42
Unraveling the mechanisms involved in motor neuron degeneration in ALS. Annu Rev Neurosci (2004) 6.99
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med (2008) 4.65
The epidemiology of autism spectrum disorders. Annu Rev Public Health (2007) 4.52
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol (2009) 4.27
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci U S A (2009) 4.18
Antisense oligonucleotide therapy for neurodegenerative disease. J Clin Invest (2006) 3.00
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria. Neuron (2004) 2.94
Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr (2009) 2.90
Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol (2009) 2.88
Autism spectrum disorder and co-occurring developmental, psychiatric, and medical conditions among children in multiple populations of the United States. J Dev Behav Pediatr (2010) 2.69
A public health collaboration for the surveillance of autism spectrum disorders. Paediatr Perinat Epidemiol (2007) 2.36
Selective association of misfolded ALS-linked mutant SOD1 with the cytoplasmic face of mitochondria. Proc Natl Acad Sci U S A (2008) 2.35
Effectiveness of pulse oximetry screening for congenital heart disease in asymptomatic newborns. Pediatrics (2003) 2.35
Maternal occupational exposure to organic solvents during early pregnancy and risks of neural tube defects and orofacial clefts. Occup Environ Med (2012) 2.35
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci U S A (2013) 2.31
Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. J Pediatr (2008) 2.20
In vivo blockade of OX40 ligand inhibits thymic stromal lymphopoietin driven atopic inflammation. J Clin Invest (2007) 2.18
Elements of morphology: standard terminology for the head and face. Am J Med Genet A (2009) 2.15
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
Intrapartum management of category II fetal heart rate tracings: towards standardization of care. Am J Obstet Gynecol (2013) 2.10
Maternal obesity and congenital heart defects: a population-based study. Am J Clin Nutr (2010) 2.06
Why primate models matter. Am J Primatol (2014) 2.05
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States. Teratology (2002) 1.94
Alcohol consumption by women before and during pregnancy. Matern Child Health J (2008) 1.94
Socioeconomic inequality in the prevalence of autism spectrum disorder: evidence from a U.S. cross-sectional study. PLoS One (2010) 1.93
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat (2009) 1.88
Heparan sulfate proteoglycans mediate internalization and propagation of specific proteopathic seeds. Proc Natl Acad Sci U S A (2013) 1.88
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
Maternal smoking during pregnancy and the prevalence of autism spectrum disorders, using data from the autism and developmental disabilities monitoring network. Environ Health Perspect (2012) 1.79
Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts. Epidemiology (2007) 1.67
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol (2013) 1.63
Maternal asthma medication use and the risk of gastroschisis. Am J Epidemiol (2008) 1.62
Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol (2006) 1.59
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet (2002) 1.57
Residential mobility during pregnancy and the potential for ambient air pollution exposure misclassification. Environ Res (2009) 1.56
Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy. Neurology (2013) 1.53
In vitro fertilization is associated with an increase in major birth defects. Fertil Steril (2005) 1.51
Maternal smoking and congenital heart defects. Pediatrics (2008) 1.49
Prenatal screening and diagnosis for pediatricians. Pediatrics (2004) 1.46
Maternal hypertension, medication use, and hypospadias in the National Birth Defects Prevention Study. Obstet Gynecol (2014) 1.45
Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep (2002) 1.45
The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A (2007) 1.45
Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management. J Child Neurol (2010) 1.44
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. J Am Soc Echocardiogr (2010) 1.43
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA (2012) 1.40
Maternal butalbital use and selected defects in the national birth defects prevention study. Headache (2013) 1.39
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med (2008) 1.36
The National Down Syndrome Project: design and implementation. Public Health Rep (2007) 1.35
Antihypertensive medication use during pregnancy and the risk of cardiovascular malformations. Hypertension (2009) 1.35
Mortality in Friedreich ataxia. J Neurol Sci (2011) 1.33
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord (2010) 1.29
Antisense reduction of tau in adult mice protects against seizures. J Neurosci (2013) 1.29
ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import. Proc Natl Acad Sci U S A (2010) 1.26
The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. Birth Defects Res A Clin Mol Teratol (2006) 1.24
Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord (2010) 1.24
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet A (2006) 1.24
Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood (2007) 1.23
Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy. Muscle Nerve (2007) 1.23
Changes in autism spectrum disorder prevalence in 4 areas of the United States. Disabil Health J (2010) 1.23
Integration of DNA sample collection into a multi-site birth defects case-control study. Teratology (2002) 1.22
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet (2008) 1.22
Splicing biomarkers of disease severity in myotonic dystrophy. Ann Neurol (2013) 1.22
Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve (2013) 1.20
Maternal low-level lead exposure and fetal growth. Environ Health Perspect (2010) 1.20
Bayesian methods for correcting misclassification: an example from birth defects epidemiology. Epidemiology (2009) 1.19
Repeated episodes of ozone inhalation amplifies the effects of allergen sensitization and inhalation on airway immune and structural development in Rhesus monkeys. Toxicol Appl Pharmacol (2003) 1.18
Maternal occupational exposure to polycyclic aromatic hydrocarbons: effects on gastroschisis among offspring in the National Birth Defects Prevention Study. Environ Health Perspect (2012) 1.16
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. Ann Neurol (2014) 1.15
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol (2008) 1.14
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat (2011) 1.13
Mode of delivery and neonatal survival of infants with isolated gastroschisis. Obstet Gynecol (2004) 1.13
Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy. J Child Neurol (2010) 1.12