Search Results - "NEUMEYER, ANN M"
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1
Co-occurrence and inheritance of two typically sporadic neurogenetic disorders
Published in Annals of the Child Neurology Society (01-03-2024)Get full text
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2
Metabolic interventions in Autism Spectrum Disorder
Published in Neurobiology of disease (01-12-2019)“…Metabolic interventions including special diets and supplements are commonly used in Autism Spectrum Disorder (ASD). Yet little is known about how these…”
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3
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects
Published in Orphanet journal of rare diseases (20-02-2024)“…TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of…”
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4
A rational pharmacologic approach toward a biologically meaningful subtype of autism spectrum disorder
Published in Jornal de pediatria (01-01-2021)Get full text
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5
Understanding relationships between autism, intelligence, and epilepsy: a cross‐disorder approach
Published in Developmental medicine and child neurology (01-02-2013)“…Aim As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the…”
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Bone Accrual in Males with Autism Spectrum Disorder
Published in The Journal of pediatrics (01-02-2017)“…Objective To test the hypothesis that bone accrual over a 4-year period is reduced in boys with autism spectrum disorder (ASD) compared with typically…”
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Investigating Potential Biomarkers in Autism Spectrum Disorder
Published in Frontiers in integrative neuroscience (02-08-2019)“…Early identification and treatment of individuals with autism spectrum disorder (ASD) improves outcomes, but specific evidence needed to individualize…”
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Course and Predictors of Sleep and Co-occurring Problems in Children with Autism Spectrum Disorder
Published in Journal of autism and developmental disorders (01-05-2019)“…The chronicity of sleep disturbance and its relation to co-occurring symptoms in children with autism spectrum disorder (ASD) are not well understood. The…”
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A REDCap-based model for online interventional research: Parent sleep education in autism
Published in Journal of clinical and translational science (2021)“…The use of online platforms for pediatric healthcare research is timely, given the current pandemic. These platforms facilitate trial efficiency integration…”
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10
Bone Density in Peripubertal Boys with Autism Spectrum Disorders
Published in Journal of autism and developmental disorders (01-07-2013)“…We determined whether bone mineral density (BMD) is lower in boys with autism spectrum disorders (ASD) than controls, and also assessed variables that may…”
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Bone Density in Adolescents and Young Adults with Autism Spectrum Disorders
Published in Journal of autism and developmental disorders (01-11-2016)“…Patients with autism spectrum disorder (ASD) are at increased risk for fracture, and peri-pubertal boys with ASD have lower bone mineral density (BMD) than…”
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12
Identifying Associations Among Co-Occurring Medical Conditions in Children With Autism Spectrum Disorders
Published in Academic pediatrics (01-04-2019)“…Children with autism spectrum disorder (ASD) have a high prevalence of co-occurring medical conditions, including speech, sleep, and gastrointestinal disorders…”
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13
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Published in American journal of human genetics (03-06-2021)“…Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor…”
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14
Beyond the brain: A multi-system inflammatory subtype of autism spectrum disorder
Published in Psychopharmacology (01-10-2019)“…An immune-mediated subtype of autism spectrum disorder (ASD) has long been hypothesized. This article reviews evidence from family history studies of…”
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A Practice Pathway for the Treatment of Night Wakings in Children with Autism Spectrum Disorder
Published in Journal of autism and developmental disorders (01-08-2024)“…Children with autism spectrum disorder (ASD) report high rates of sleep problems. In 2012, the Autism Treatment Network/ Autism Intervention Research Network…”
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Physical activity rates in children and adolescents with autism spectrum disorder compared to the general population
Published in Research in autism spectrum disorders (01-02-2020)“…•Physical activity may benefit children with ASD.•Physical activity rates are reduced in 6–11 year old children with ASD.•A few demographic, child, and family…”
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Optimizing Care for Autistic Patients in Health Care Settings: A Scoping Review and Call to Action
Published in Academic pediatrics (01-04-2024)“…We conducted a scoping review of interventions designed to improve the health care experiences of autistic individuals and assessed the methodology and…”
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18
Nutrition and Bone Density in Boys with Autism Spectrum Disorder
Published in Journal of the Academy of Nutrition and Dietetics (01-05-2018)“…Boys with autism spectrum disorder (ASD) have lower bone mineral density (BMD) than typically developing controls. Differences in diet and exercise may…”
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A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating
Published in Experimental neurology (01-09-2020)“…Abstract Genetic variants causing the fast-channel congenital myasthenic syndrome (CMS) have been identified in the α, δ, and ε but not the β subunit of…”
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Bone microarchitecture in adolescent boys with autism spectrum disorder
Published in Bone (New York, N.Y.) (01-04-2017)“…Boys with autism spectrum disorder (ASD) have lower areal bone mineral density (aBMD) than typically developing controls (TDC). Studies of volumetric BMD…”
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