Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Stephanie M McTighe"'
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e62189 (2013)
Autism is a complex spectrum of disorders characterized by core behavioral deficits in social interaction, communication, repetitive stereotyped behaviors and restricted interests. Autism frequently presents with additional cognitive symptoms, includ
Externí odkaz:
https://doaj.org/article/37061566e45f45e6bad36a51a0cad30d
Autor:
Sameer C. Dhamne, Meera E. Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E. Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M. McTighe, Sarika Gurnani, Sheryl Anne D. Vermudez, Daniel Curtis, Christopher J. Wilson, Mustafa Q. Hameed, Angelica D'Amore, Alexander Rotenberg, Mustafa Sahin
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1790-1801 (2023)
Abstract Objective Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder caused by autosomal‐dominant pathogenic variants in either the TSC1 or TSC2 gene, and it is characterized by hamartomas in multiple organs, such as skin, kidney, l
Externí odkaz:
https://doaj.org/article/5e6e60c1d4644ed1b4ab20f434f5f54a
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, vol 18, iss 3
Neurotherapeutics
Neurotherapeutics
Angelman syndrome (AS) is a rare (~1:15,000) neurodevelopmental disorder characterized by severe developmental delay and intellectual disability, impaired communication skills, and a high prevalence of seizures, sleep disturbances, ataxia, motor defi
Autor:
Noel Marie-France Thomsen, Simone Bonazzi, Stephanie M. McTighe, Guiqing Liang, Danuta Lubicka, Sarah Salas, Jill Nunez, Franco Lombardo, Rajeshri Ganesh Karki, Audrey Gray, Stefan Peukert, Doug Burdette, Jean-Cosme Dodart, Leon Murphy, Grazia Piizzi, Carleton Goold, Labbe-Giguere Nancy, Erin P. Keaney, Jonathan D. Biag, Christine D. Wilson, Aakruti Gorde, Lawrence G. Hamann, Yingchuan Sun, Lin Deng, Hasnain A. Malik, Daniel Curtis, Shanming Liu
Publikováno v:
Journal of medicinal chemistry. 63(3)
Recent clinical evaluation of everolimus for seizure reduction in patients with tuberous sclerosis complex (TSC), a disease with overactivated mechanistic target of rapamycin (mTOR) signaling, has demonstrated the therapeutic value of mTOR inhibitors
Publikováno v:
Good Research Practice in Non-Clinical Pharmacology and Biomedicine ISBN: 9783030336554
Animal models consisting of inbred laboratory rodent strains have been a powerful tool for decades, helping to unravel the underpinnings of biological problems and employed to evaluate potential therapeutic treatments in drug discovery. While inbred
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4374b0ae25bd11f58a162eb7ac1e86a0
https://doi.org/10.1007/164_2019_282
https://doi.org/10.1007/164_2019_282
Autor:
Guglielmo Roma, Andreas Lüthi, Pico Caroni, Walter Carbone, Michael Bidinosti, Sebastian Krüttner, Natacha Stoehr, Ricardo E. Dolmetsch, Stephanie M. McTighe, Tewis Bouwmeester, Debora Bonenfant, Ivan Galimberti, Matthias Mueller, Hans Voshol, Isabelle Fruh, Sarah J. Neal, Paolo Botta, Catia C. Proenca, Mario Bernhard, Jeffrey A. Porter
Publikováno v:
Science (New York N.Y.)
Signal problems in autism spectrum disorder Autism spectrum disorders have many causes. Bidinosti et al. studied Phelan-McDermid syndrome (PMDS), one of the symptoms of which can be autism (see the Perspective by Burbach). The authors used neurons de
Autor:
Alun D. McCarthy, Ian J. Owens, Stephanie M. McTighe, Timothy J. Bussey, Lisa M. Saksida, Aruna T. Bansal
Publikováno v:
Pharmacology Biochemistry and Behavior. 98:76-80
FK962 is a member of a novel class of compounds that promote somatostatin production in the brain, and is being developed as a treatment for patients with Alzheimer's disease. As acetylcholinesterase inhibitors such as Aricept© (donepezil) are widel
Publikováno v:
NeuroReport. 20:881-885
Researchers are becoming increasingly interested in the role of the hippocampus in pattern separation, a process which keeps items distinct in memory. In this study, we develop and test a new automated touchscreen-based method for studying pattern se
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e62189 (2013)
PLoS ONE
PLoS ONE
Autism is a complex spectrum of disorders characterized by core behavioral deficits in social interaction, communication, repetitive stereotyped behaviors and restricted interests. Autism frequently presents with additional cognitive symptoms, includ