Mitochondrial dysfunction in autism.

Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging. JAMA Psychiatry (2014) 2.21

Preeclampsia, placental insufficiency, and autism spectrum disorder or developmental delay. JAMA Pediatr (2015) 1.75

Proton magnetic resonance spectroscopy and MRI reveal no evidence for brain mitochondrial dysfunction in children with autism spectrum disorder. J Autism Dev Disord (2012) 1.49

Sulforaphane treatment of autism spectrum disorder (ASD). Proc Natl Acad Sci U S A (2014) 1.47

Evidence of oxidative damage and inflammation associated with low glutathione redox status in the autism brain. Transl Psychiatry (2012) 1.35

Short-chain fatty acid fermentation products of the gut microbiome: implications in autism spectrum disorders. Microb Ecol Health Dis (2012) 1.35

A mitochondrial bioenergetic etiology of disease. J Clin Invest (2013) 1.27

Tipping the balance of autism risk: potential mechanisms linking pesticides and autism. Environ Health Perspect (2012) 1.25

Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders. Pediatr Res (2011) 1.24

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2011) 1.23

Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort. PLoS One (2014) 1.20

Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. Transl Psychiatry (2013) 1.17

Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments. Neuropsychopharmacology (2011) 1.15

Brain transcriptional and epigenetic associations with autism. PLoS One (2012) 1.13

Deficits in bioenergetics and impaired immune response in granulocytes from children with autism. Pediatrics (2014) 1.12

Oxidative stress induces mitochondrial dysfunction in a subset of autistic lymphoblastoid cell lines. Transl Psychiatry (2014) 1.11

Alterations of Mitochondrial DNA Copy Number and Telomere Length With Early Adversity and Psychopathology. Biol Psychiatry (2015) 1.10

Fragile x syndrome. Curr Genomics (2011) 1.09

Examining autism spectrum disorders by biomarkers: example from the oxytocin and serotonin systems. J Am Acad Child Adolesc Psychiatry (2012) 1.09

Environmental chemical exposures and autism spectrum disorders: a review of the epidemiological evidence. Curr Probl Pediatr Adolesc Health Care (2014) 1.06

Mitochondrial abnormalities in temporal lobe of autistic brain. Neurobiol Dis (2013) 1.04

Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism. Front Physiol (2014) 1.04

Alterations in the Vaginal Microbiome by Maternal Stress Are Associated With Metabolic Reprogramming of the Offspring Gut and Brain. Endocrinology (2015) 1.02

Redox metabolism abnormalities in autistic children associated with mitochondrial disease. Transl Psychiatry (2013) 1.00

Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53. PLoS One (2012) 1.00

Measuring the maturity of the fast-spiking interneuron transcriptional program in autism, schizophrenia, and bipolar disorder. PLoS One (2012) 1.00

Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism. Transl Psychiatry (2013) 0.99

Intracellular and extracellular redox status and free radical generation in primary immune cells from children with autism. Autism Res Treat (2011) 0.99

Brain region-specific altered expression and association of mitochondria-related genes in autism. Mol Autism (2012) 0.96

Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism. Mol Autism (2013) 0.95

The many roads to mitochondrial dysfunction in neuroimmune and neuropsychiatric disorders. BMC Med (2015) 0.94

TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME. Res Autism Spectr Disord (2012) 0.94

Toxicity of the flame-retardant BDE-49 on brain mitochondria and neuronal progenitor striatal cells enhanced by a PTEN-deficient background. Toxicol Sci (2013) 0.94

Perinatal stress, brain inflammation and risk of autism-review and proposal. BMC Pediatr (2012) 0.94

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder. BMC Med Genet (2011) 0.93

Biomarkers in autism. Front Psychiatry (2014) 0.92

Treatments for biomedical abnormalities associated with autism spectrum disorder. Front Pediatr (2014) 0.91

Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome. J Biol Chem (2015) 0.90

Genetics and mitochondrial abnormalities in autism spectrum disorders: a review. Curr Genomics (2011) 0.89

Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome. Microb Ecol Health Dis (2015) 0.89

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment. Mol Syndromol (2016) 0.88

Evidence of microglial activation in autism and its possible role in brain underconnectivity. Neuron Glia Biol (2012) 0.87

Neuronal nucleus and cytoplasm volume deficit in children with autism and volume increase in adolescents and adults. Acta Neuropathol Commun (2015) 0.87

AMPD1 functional variants associated with autism in Han Chinese population. Eur Arch Psychiatry Clin Neurosci (2014) 0.87

Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Dis Model Mech (2012) 0.86

Altered metabolites in the plasma of autism spectrum disorder: a capillary electrophoresis time-of-flight mass spectroscopy study. PLoS One (2013) 0.86

Evidence for differential alternative splicing in blood of young boys with autism spectrum disorders. Mol Autism (2013) 0.85

Dysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity. J Neurosci (2015) 0.85

Does microglial dysfunction play a role in autism and Rett syndrome? Neuron Glia Biol (2012) 0.84

Association of genetic variation in the mitochondrial genome with blood pressure and metabolic traits. Hypertension (2012) 0.84

Recent update of autism spectrum disorders. Korean J Pediatr (2015) 0.84

Potential therapeutic use of the ketogenic diet in autism spectrum disorders. Front Pediatr (2014) 0.83

Role of NAD(+), Oxidative Stress, and Tryptophan Metabolism in Autism Spectrum Disorders. Int J Tryptophan Res (2013) 0.83

Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism. BMC Psychiatry (2015) 0.83

The pathophysiology of autism. Glob Adv Health Med (2013) 0.83

Identification and Treatment of Pathophysiological Comorbidities of Autism Spectrum Disorder to Achieve Optimal Outcomes. Clin Med Insights Pediatr (2016) 0.82

Gestational exposure to a viral mimetic poly(i:C) results in long-lasting changes in mitochondrial function by leucocytes in the adult offspring. Mediators Inflamm (2013) 0.82

Genomic studies in fragile X premutation carriers. J Neurodev Disord (2014) 0.82

Enrichment of elevated plasma F2t-isoprostane levels in individuals with autism who are stratified by presence of gastrointestinal dysfunction. PLoS One (2013) 0.82

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics (2013) 0.82

Anaplerotic triheptanoin diet enhances mitochondrial substrate use to remodel the metabolome and improve lifespan, motor function, and sociability in MeCP2-null mice. PLoS One (2014) 0.81

Redox Regulation and the Autistic Spectrum: Role of Tryptophan Catabolites, Immuno-inflammation, Autoimmunity and the Amygdala. Curr Neuropharmacol (2014) 0.81

Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum (2016) 0.81

Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers. Brain Disord Ther (2014) 0.81

Ubiquinol improves symptoms in children with autism. Oxid Med Cell Longev (2014) 0.81

Possible involvement of TLRs and hemichannels in stress-induced CNS dysfunction via mastocytes, and glia activation. Mediators Inflamm (2013) 0.81

The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism. Acta Neuropathol Commun (2013) 0.80

A mixed-methods investigation of sensory response patterns in Barth syndrome: a clinical phenotype? Am J Med Genet A (2012) 0.80

Assessing bioenergetic compromise in autism spectrum disorder with 31P magnetic resonance spectroscopy: preliminary report. J Child Neurol (2013) 0.79

Purinergic signaling and energy homeostasis in psychiatric disorders. Curr Mol Med (2015) 0.79

Nanotechnology inspired tools for mitochondrial dysfunction related diseases. Adv Drug Deliv Rev (2016) 0.78

Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study. FASEB J (2016) 0.78

Vitamin D and Autism Spectrum Disorder: A Literature Review. Nutrients (2016) 0.78

Allergic fetal priming leads to developmental, behavioral and neurobiological changes in mice. Transl Psychiatry (2015) 0.77

Integrating mitochondriomics in children's environmental health. J Appl Toxicol (2015) 0.77

Synergic effect of GSTP1 and blood manganese concentrations in Autism Spectrum Disorder. Res Autism Spectr Disord (2015) 0.77

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder. PLoS Genet (2016) 0.77

The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder. J Clin Med (2017) 0.76

Autism, Mitochondria and Polybrominated Diphenyl Ether Exposure. CNS Neurol Disord Drug Targets (2016) 0.76

Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1. Brain Pathol (2014) 0.76

Substantial problems with measuring brain mitochondrial dysfunction in autism spectrum disorder using magnetic resonance spectroscopy. J Autism Dev Disord (2012) 0.76

Anopheles stephensi p38 MAPK signaling regulates innate immunity and bioenergetics during Plasmodium falciparum infection. Parasit Vectors (2015) 0.76

Expression of Reactive Oxygen Species-Related Transcripts in Egyptian Children With Autism. Biomark Insights (2017) 0.75

Predicting Autism Spectrum Disorder Using Blood-based Gene Expression Signatures and Machine Learning. Clin Psychopharmacol Neurosci (2017) 0.75

Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study. Pediatrics (2016) 0.75

Lymphocytes mitochondrial physiology as biomarker of energy metabolism during fasted and fed conditions. ScientificWorldJournal (2012) 0.75

Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder. Front Neurosci (2016) 0.75

Mitochondrial DNA mutations in two bulgarian children with autistic spectrum disorders. Balkan J Med Genet (2012) 0.75

Riboflavin. Adv Nutr (2016) 0.75

Mitochondrial Copy Number as a Biomarker for Autism? Pediatrics (2016) 0.75

Sex-specific differences in mitochondria biogenesis, morphology, respiratory function, and ROS homeostasis in young mouse heart and brain. Physiol Rep (2017) 0.75

Increased plasma levels of circulating cell-free mitochondrial DNA in suicide attempters: associations with HPA-axis hyperactivity. Transl Psychiatry (2016) 0.75

Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine. Mol Med (2016) 0.75

Increased expression of fatty acid synthase and acetyl-CoA carboxylase in the prefrontal cortex and cerebellum in the valproic acid model of autism. Exp Ther Med (2016) 0.75

Evidence of Mitochondrial Dysfunction in Autism: Biochemical Links, Genetic-Based Associations, and Non-Energy-Related Mechanisms. Oxid Med Cell Longev (2017) 0.75

Warburg effect linked to cognitive-executive deficits in FMR1 premutation. FASEB J (2016) 0.75

Inflammation, ectopic fat and lipid metabolism: view from the chair. Int J Obes Suppl (2012) 0.75

Bioenergetic variation is related to autism symptomatology. Metab Brain Dis (2017) 0.75

Dysregulation of Alternative Poly-adenylation as a Potential Player in Autism Spectrum Disorder. Front Mol Neurosci (2017) 0.75

Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism. Brain Sci (2017) 0.75

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord (1994) 42.80

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord (2000) 37.47

Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66

The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. Environ Health Perspect (2006) 3.81

Diagnostic criteria for respiratory chain disorders in adults and children. Neurology (2002) 3.12

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res (2002) 2.88

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc Natl Acad Sci U S A (1992) 2.83

Oxidative stress-related alteration of the copy number of mitochondrial DNA in human leukocytes. Free Radic Res (2003) 2.70

Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain (2003) 2.59

Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells. J Cell Physiol (1988) 2.59

Prevalence of autism spectrum disorders--autism and developmental disabilities monitoring network, six sites, United States, 2000. MMWR Surveill Summ (2007) 2.37

In vivo and in organello assessment of OXPHOS activities. Methods (2002) 2.34

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics (2004) 1.95

Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism. FASEB J (2009) 1.89

Energy thresholds in brain mitochondria. Potential involvement in neurodegeneration. J Biol Chem (1998) 1.84

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat (2000) 1.75

Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol (2005) 1.70

Effects of chronic lead exposure on 1H MRS of hippocampus and frontal lobes in children. Neurology (2005) 1.59

Mitochondrial gene expression in mammalian striated muscle. Evidence that variation in gene dosage is the major regulatory event. J Biol Chem (1986) 1.51

Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. J Child Neurol (2002) 1.39

Diagnostic uses of the Vineland Adaptive Behavior Scales. J Pediatr Psychol (1985) 1.36

Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol (2003) 1.30

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol (2006) 1.29

Plasma amino acid levels in children with autism and their families. J Autism Dev Disord (2003) 1.24

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Pyridine nucleotides and rate control. Symp Soc Exp Biol (1973) 1.20

Relative carnitine deficiency in autism. J Autism Dev Disord (2004) 1.18

Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background. Hum Mol Genet (1999) 1.17

Hydroxyl radical generation during mitochondrial electron transfer and the formation of 8-hydroxydesoxyguanosine in mitochondrial DNA. Arch Biochem Biophys (1995) 1.12

Nuclear genes in mitochondrial disorders. Curr Opin Genet Dev (2003) 1.10

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure. Clin Chim Acta (1985) 1.08

Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep (2009) 1.07

Mitochondrial DNA copy number is proportional to total cell DNA under a variety of growth conditions. J Biol Chem (1990) 1.04

Nitration of specific tyrosines in FoF1 ATP synthase and activity loss in aging. Am J Physiol Endocrinol Metab (2010) 1.01

Genetic variant of glutathione peroxidase 1 in autism. Brain Dev (2009) 0.94

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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet (2003) 5.51

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88

The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. Environ Health Perspect (2006) 3.81

Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Epidemiology (2011) 3.15

Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91

Methods of covariate selection: directed acyclic graphs and the change-in-estimate procedure. Am J Epidemiol (2009) 2.77

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr (2006) 2.73

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet (2003) 2.73

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord (2007) 2.68

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol (2002) 2.58

Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome. Brain Behav Immun (2010) 2.44

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43

Comparison of polychlorinated biphenyl levels across studies of human neurodevelopment. Environ Health Perspect (2003) 2.41

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet (2005) 2.35

Autism profiles of males with fragile X syndrome. Am J Ment Retard (2008) 2.35

Arsenic exposure from drinking water and birth weight. Epidemiology (2003) 2.32

Attenuation of exposure-response curves in occupational cohort studies at high exposure levels. Scand J Work Environ Health (2003) 2.27

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet (2007) 2.25

Traffic-related air pollution, particulate matter, and autism. JAMA Psychiatry (2013) 2.24

Maternal metabolic conditions and risk for autism and other neurodevelopmental disorders. Pediatrics (2012) 2.18

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet (2005) 2.17

Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. Am J Clin Nutr (2012) 2.14

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA (2002) 2.06

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res (2012) 2.04

The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr (2007) 2.02

A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J (2005) 1.97

Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology (2006) 1.97

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn (2009) 1.94

Residential proximity to freeways and autism in the CHARGE study. Environ Health Perspect (2010) 1.92

The faroes statement: human health effects of developmental exposure to chemicals in our environment. Basic Clin Pharmacol Toxicol (2008) 1.91

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn (2005) 1.91

Aryl hydrocarbon receptor signaling mediates expression of indoleamine 2,3-dioxygenase. Biochem Biophys Res Commun (2008) 1.89

Autism: maternally derived antibodies specific for fetal brain proteins. Neurotoxicology (2007) 1.87

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem (2010) 1.86

Characterization of activities of daily living in individuals with mild cognitive impairment. Am J Geriatr Psychiatry (2008) 1.86

The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Mol Genet (2003) 1.82

In vitro biologic activities of the antimicrobials triclocarban, its analogs, and triclosan in bioassay screens: receptor-based bioassay screens. Environ Health Perspect (2008) 1.82

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry (2006) 1.80

Altered gene expression and function of peripheral blood natural killer cells in children with autism. Brain Behav Immun (2008) 1.79

Coordinated movement of cytoplasmic and transmembrane domains of RyR1 upon gating. PLoS Biol (2009) 1.77

Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord (2007) 1.77

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology (2008) 1.75

Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75

Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study. J Sleep Res (2008) 1.72

Indoor coal use and early childhood growth. Arch Pediatr Adolesc Med (2011) 1.71

Self-reported heavy bleeding associated with uterine leiomyomata. Obstet Gynecol (2003) 1.68

Low-level neonatal thimerosal exposure: further evaluation of altered neurotoxic potential in SJL mice. Toxicol Sci (2007) 1.68

NADH oxidase activity of rat cardiac sarcoplasmic reticulum regulates calcium-induced calcium release. Circ Res (2003) 1.67

Epidemiologic measures of the course and outcome of pregnancy. Epidemiol Rev (2002) 1.62

Paternal transmission of fragile X syndrome. Am J Med Genet A (2004) 1.62

Psychosocial factors and preterm birth among African American and White women in central North Carolina. Am J Public Health (2004) 1.60

Aryl hydrocarbon receptor signaling regulates NF-κB RelB activation during dendritic-cell differentiation. Immunol Cell Biol (2013) 1.60

Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry (2011) 1.59

Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev (2006) 1.58

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J (2010) 1.58

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn (2010) 1.58

Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias. Proc Natl Acad Sci U S A (2009) 1.57

Neuropathic features in fragile X premutation carriers. Am J Med Genet A (2007) 1.56

Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep (2013) 1.56

Regression in autism: prevalence and associated factors in the CHARGE Study. Ambul Pediatr (2008) 1.56

Gene expression changes in children with autism. Genomics (2007) 1.55

Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene. Mol Pharmacol (2008) 1.55

Neurodevelopmental disorders and prenatal residential proximity to agricultural pesticides: the CHARGE study. Environ Health Perspect (2014) 1.54

The onset of autism: patterns of symptom emergence in the first years of life. Autism Res (2008) 1.53

Altered T cell responses in children with autism. Brain Behav Immun (2010) 1.53

Conformational activation of Ca2+ entry by depolarization of skeletal myotubes. Proc Natl Acad Sci U S A (2004) 1.51

Project TENDR: Targeting Environmental Neuro-Developmental Risks The TENDR Consensus Statement. Environ Health Perspect (2016) 1.50

The skeletal L-type Ca(2+) current is a major contributor to excitation-coupled Ca(2+) entry. J Gen Physiol (2009) 1.50

Determinants of serum polychlorinated biphenyls and organochlorine pesticides measured in women from the child health and development study cohort, 1963-1967. Environ Health Perspect (2002) 1.50

Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr (2004) 1.47

Associations of impaired behaviors with elevated plasma chemokines in autism spectrum disorders. J Neuroimmunol (2010) 1.46

Amygdala dysfunction in men with the fragile X premutation. Brain (2006) 1.46

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet (2004) 1.44

The fragile X premutation presenting as essential tremor. Arch Neurol (2003) 1.43

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Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet (2006) 1.42

Decreased transforming growth factor beta1 in autism: a potential link between immune dysregulation and impairment in clinical behavioral outcomes. J Neuroimmunol (2008) 1.41

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol (2011) 1.39

Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem (2003) 1.38

PBDEs in 2-5 year-old children from California and associations with diet and indoor environment. Environ Sci Technol (2010) 1.38

A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia (2004) 1.38

Reduced levels of immunoglobulin in children with autism correlates with behavioral symptoms. Autism Res (2008) 1.37

Maternal lifestyle and environmental risk factors for autism spectrum disorders. Int J Epidemiol (2014) 1.36

Conditions for bias from differential left truncation. Am J Epidemiol (2006) 1.35

Polychlorinated biphenyls and their hydroxylated metabolites (OH-PCBS) in pregnant women from eastern Slovakia. Environ Health Perspect (2007) 1.35

Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiol Dis (2005) 1.34