Search Results - "Copping, A."
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1
Germline Chd8 haploinsufficiency alters brain development in mouse
Published in Nature neuroscience (01-08-2017)“…Strong genetic evidence points to a significant role for heterozygous mutations to general chromatin remodeling factors, such as CHD8, in autism. Gompers et al…”
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2
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome
Published in Neurotherapeutics (01-07-2021)“…Angelman syndrome (AS) is a rare (~1:15,000) neurodevelopmental disorder characterized by severe developmental delay and intellectual disability, impaired…”
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3
Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome
Published in Molecular autism (06-02-2021)“…Angelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring…”
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4
Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism
Published in Molecular autism (15-06-2017)“…Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral…”
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5
Participatory design in refugee camps: comparison of different methods and visualization tools
Published in Building research and information : the international journal of research, development and demonstration (17-02-2021)“…Shelters for the displaced can suffer from socio-cultural incompatibility and significant levels of occupant dissatisfaction. Participatory design (PD) is…”
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6
Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome
Published in Human molecular genetics (15-10-2017)“…Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental…”
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Developmental social communication deficits in the Shank3 rat model of phelan‐mcdermid syndrome and autism spectrum disorder
Published in Autism research (01-04-2018)“…Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan‐McDermid Syndrome. This study…”
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Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome
Published in Translational psychiatry (27-01-2020)“…Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired communication, motor deficits and ataxia,…”
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Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice
Published in Genome medicine (26-04-2021)“…Genes with multiple co-active promoters appear common in brain, yet little is known about functional requirements for these potentially redundant genomic…”
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10
Unique Features of the Gut Microbiome Characterized in Animal Models of Angelman Syndrome
Published in mSystems (23-02-2023)“…A large subset of patients with Angelman syndrome (AS) suffer from concurrent gastrointestinal (GI) issues, including constipation, poor feeding, and reflux…”
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11
Applying a simple model for estimating the likelihood of collision of marine mammals with tidal turbines
Published in International marine energy journal (01-08-2018)“…As tidal turbine deployments continue at test sites and in commercial areas, the potential risk for injury or death of marine mammals from colliding with…”
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12
Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells
Published in Human molecular genetics (09-06-2021)“…Abstract Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by impaired communication skills, ataxia, motor and balance deficits,…”
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Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome
Published in Neurobiology of learning and memory (01-11-2019)“…•A lack of the gene cluster SNORD116 may be responsible for some aspects of PWS.•Heterozygous Snord116 mutation mice had learning and memory deficits in three…”
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Touchscreen learning deficits and normal social approach behavior in the Shank3B model of Phelan–McDermid Syndrome and autism
Published in Neuroscience (14-03-2017)“…Highlights • Shank3B +/− mice exhibit deficits in higher order learning and memory. • Shank3B +/− mice exhibit normal social approach. • Shank3B +/− mice…”
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15
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency
Published in Human molecular genetics (10-09-2022)“…Abstract Many neurodevelopmental disorders (NDDs) are the result of mutations on the X chromosome. One severe NDD resulting from mutations on the X chromosome…”
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16
Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model
Published in Molecular therapy (05-04-2023)“…Angelman syndrome (AS) is a neurogenetic disorder caused by the loss of ubiquitin ligase E3A (UBE3A) gene expression in the brain. The UBE3A gene is paternally…”
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Assessing the effects of marine and hydrokinetic energy development on marine and estuarine resources
Published in OCEANS 2010 MTS/IEEE SEATTLE (01-09-2010)“…The world's oceans and estuaries offer enormous potential to meet the nation's growing demand for energy. The use of marine and hydrokinetic (MHK) devices to…”
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Conference Proceeding -
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Cognitive behavioural therapy for adults with dissociative seizures (CODES): a pragmatic, multicentre, randomised controlled trial
Published in The Lancet. Psychiatry (01-06-2020)“…Dissociative seizures are paroxysmal events resembling epilepsy or syncope with characteristic features that allow them to be distinguished from other medical…”
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Tethys knowledge management system: Working to advance the marine renewable energy industry
Published in International marine energy journal (31-10-2019)“…Development of the marine renewable energy (MRE) industry has been challenged by uncertainty about potential environmental effects, which has resulted in…”
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20
The development of a Fire Safety Evaluation Procedure for the Property Protection of Parish Churches
Published in Fire technology (01-10-2002)“…Incidences of fires in churches are currently exceeding those in all other historic building types. This trend is destroying irreplaceable national treasures…”
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Conference Proceeding Journal Article