Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Murat, Kilinc"'
Publikováno v:
Psych, Vol 5, Iss 4, Pp 1109-1121 (2023)
We compared three methods for scoring the Balanced Inventory of Desirable Responding (BIDR) to detect faked responses on self-report measures: (1) polytomous, (2) dichotomous emphasizing exaggerating endorsement of socially desirable behaviors, and (
Externí odkaz:
https://doaj.org/article/6e5e009393e24d6a8d6328969bd18b2c
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
Publikováno v:
eLife, Vol 11 (2022)
Loss-of-function variants in SYNGAP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple cellul
Externí odkaz:
https://doaj.org/article/b2d529b24e8e40d98531dc9a6b1666ca
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-6 (2018)
Abstract Background Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent gen
Externí odkaz:
https://doaj.org/article/6e6c0f1a07b9433c8fa208898f8060ef
Autor:
Thomas K Creson, Camilo Rojas, Ernie Hwaun, Thomas Vaissiere, Murat Kilinc, Andres Jimenez-Gomez, Jimmy Lloyd Holder Jr, Jianrong Tang, Laura L Colgin, Courtney A Miller, Gavin Rumbaugh
Publikováno v:
eLife, Vol 8 (2019)
It remains unclear to what extent neurodevelopmental disorder (NDD) risk genes retain functions into adulthood and how they may influence disease phenotypes. SYNGAP1 haploinsufficiency causes a severe NDD defined by autistic traits, cognitive impairm
Externí odkaz:
https://doaj.org/article/10c02d4e26fb45a18f6fa15636bfbc56
Autor:
Ana M. Magariños, Sara Pedron, Marc Creixell, Murat Kilinc, Inna Tabansky, Donald W. Pfaff, Brendan A. C. Harley
Publikováno v:
Frontiers in Materials, Vol 5 (2018)
The study of the behavior of embryonic neurons in controlled in vitro conditions require methodologies that take advantage of advanced tissue engineering approaches to replicate elements of the developing brain extracellular matrix. We report here a
Externí odkaz:
https://doaj.org/article/9d9f95a5e5734ff2926ffe39f2d27a0c
Autor:
Adrian Reich, Courtney A. Miller, Vineet Arora, Gavin Rumbaugh, BanuPriya Sridharan, Murat Kilinc, J. Lloyd Holder, Lukasz Bijoch, Nerea Llamosas, David R. Piper, Louis Scampavia, Camilo Rojas, Timothy P. Spicer, Erik Willems, Ridhima Vij
Publikováno v:
J Neurosci
SYNGAP1is a major genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy.De novoloss-of-function variants in this gene cause a neurodevelopmental disorder defined by cognitive impairment, social-com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddf22e6ca5215ce4ed1bf45542dad19c
https://doi.org/10.1523/jneurosci.1367-20.2020
https://doi.org/10.1523/jneurosci.1367-20.2020
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2632c3ea572bd76f5bc9d445cec22daf
https://doi.org/10.7554/elife.75707.sa2
https://doi.org/10.7554/elife.75707.sa2
Publikováno v:
Neuroscience in the 21st Century ISBN: 9781461464341
Neuroscience in the 21st Century
Neuroscience in the 21st Century
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767c20885d62cb1d3f8dde88fb502a52
https://doi.org/10.1007/978-3-030-88832-9_79
https://doi.org/10.1007/978-3-030-88832-9_79
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
SummaryLoss-of-function variants in SYNAGP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efb18f076d5c40f09c226078126faafd
https://doi.org/10.1101/2021.12.05.471306
https://doi.org/10.1101/2021.12.05.471306