Published in Birth Defects Res A Clin Mol Teratol on November 01, 2006
Widening gap in age at muscular dystrophy-associated death between blacks and whites, 1986-2005. Neurology (2010) 1.50
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
If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials (2011) 1.08
Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics (2015) 1.06
Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? Neurology (2013) 0.97
Use of state administrative data sources to study adolescents and young adults with rare conditions. J Gen Intern Med (2014) 0.96
Corticosteroid Treatments in Males With Duchenne Muscular Dystrophy: Treatment Duration and Time to Loss of Ambulation. J Child Neurol (2014) 0.85
Complementary and alternative medicine for Duchenne and Becker muscular dystrophies: characteristics of users and caregivers. Pediatr Neurol (2014) 0.82
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PLoS One (2015) 0.79
Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network. J Dev Behav Pediatr (2015) 0.76
Corticosteroid Treatment and Growth Patterns in Ambulatory Males with Duchenne Muscular Dystrophy. J Pediatr (2016) 0.75
Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States. JMIR Public Health Surveill (2016) 0.75
Genitourinary health in a population-based cohort of males with Duchenne and Becker Muscular dystrophies. Muscle Nerve (2015) 0.75
Methods for surveillance of fetal alcohol syndrome: The Fetal Alcohol Syndrome Surveillance Network II (FASSNetII) - Arizona, Colorado, New York, 2009 - 2014. Birth Defects Res A Clin Mol Teratol (2015) 0.75
Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources. Health Qual Life Outcomes (2017) 0.75
Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials. Neuromuscul Disord (2017) 0.75
Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies. Disabil Rehabil (2017) 0.75
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol (2009) 8.42
Factors associated with the development of peanut allergy in childhood. N Engl J Med (2003) 7.82
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
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
Cell-phone-based platform for biomedical device development and education applications. PLoS One (2011) 2.84
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
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
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
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
From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics (2006) 1.77
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
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
The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A (2007) 1.45
Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep (2002) 1.45
Maternal hypertension, medication use, and hypospadias in the National Birth Defects Prevention Study. Obstet Gynecol (2014) 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
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
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
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
Bayesian methods for correcting misclassification: an example from birth defects epidemiology. Epidemiology (2009) 1.19
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
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
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res (2009) 1.12
Antisense oligonucleotides: treating neurodegeneration at the level of RNA. Neurotherapeutics (2013) 1.10
Maternal caffeine consumption and risk of neural tube defects. Birth Defects Res A Clin Mol Teratol (2009) 1.07
Reliability of the Tardieu Scale for assessing spasticity in children with cerebral palsy. Arch Phys Med Rehabil (2010) 1.06
Athabascan brainstem dysgenesis syndrome. Am J Med Genet A (2003) 1.05
Family history as a risk factor for development of uterine leiomyomas. Results of a pilot study. J Reprod Med (2002) 1.05
Demographic and environmental risk factors for gastroschisis and omphalocele in the National Birth Defects Prevention Study. J Pediatr Surg (2009) 1.04
Health care utilization and expenditures for children and young adults with muscular dystrophy in a privately insured population. J Child Neurol (2008) 1.04
Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy. J Child Neurol (2010) 1.04
Pesticides and hypospadias: a meta-analysis. J Pediatr Urol (2008) 1.04
Progressive spinal axonal degeneration and slowness in ALS2-deficient mice. Ann Neurol (2006) 1.04
Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1). Muscle Nerve (2007) 1.03
Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice. Hum Mol Genet (2013) 1.03