Zobrazeno 1 - 10
of 179
pro vyhledávání: '"Peter B, Crino"'
Publikováno v:
Neurobiology of Disease, Vol 187, Iss , Pp 106299- (2023)
De novo somatic (post-zygotic) gene mutations affecting neuroglial progenitor cell types in embryonic cerebral cortex are increasingly identified in patients with drug resistant epilepsy (DRE) associated with malformations of cortical development, in
Externí odkaz:
https://doaj.org/article/d8b403e5e2a846389eae12a2554bfcf3
Autor:
Anatoly Korotkov, Mark J. Luinenburg, Alessia Romagnolo, Till S. Zimmer, Jackelien van Scheppingen, Anika Bongaarts, Diede W. M. Broekaart, Jasper J. Anink, Caroline Mijnsbergen, Floor E. Jansen, Wim van Hecke, Wim G. Spliet, Peter C. van Rijen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Peter B. Crino, Katarzyna Kotulska, Lieven Lagae, Anna C. Jansen, David J. Kwiatkowski, Sergiusz Jozwiak, Paolo Curatolo, Angelika Mühlebner, Erwin A. van Vliet, James D. Mills, Eleonora Aronica
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-16 (2022)
Abstract Background The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment.
Externí odkaz:
https://doaj.org/article/9e33560efb00425a8bb93db1a513ea16
Autor:
Su Mi Park, Cooper E Roache, Philip H Iffland II, Hans J Moldenhauer, Katia K Matychak, Amber E Plante, Abby G Lieberman, Peter B Crino, Andrea Meredith
Publikováno v:
eLife, Vol 11 (2022)
KCNMA1 forms the pore of BK K+ channels, which regulate neuronal and muscle excitability. Recently, genetic screening identified heterozygous KCNMA1 variants in a subset of patients with debilitating paroxysmal non-kinesigenic dyskinesia, presenting
Externí odkaz:
https://doaj.org/article/987d4544913248bc9d9308fe770b414a
Autor:
James D. Mills, Anand M. Iyer, Jackelien van Scheppingen, Anika Bongaarts, Jasper J. Anink, Bart Janssen, Till S. Zimmer, Wim G. Spliet, Peter C. van Rijen, Floor E. Jansen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Jansen, Lieven Lagae, Paolo Curatolo, David J. Kwiatkowski, R. Jeroen Pasterkamp, Ketharini Senthilkumar, Lars von Oerthel, Marco F. Hoekman, Jan A. Gorter, Peter B. Crino, Angelika Mühlebner, Brendon P. Scicluna, Eleonora Aronica
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/de7a426cad954b378ca437aa8208234a
Autor:
Louis T. Dang, Katarzyna M. Glanowska, Philip H. Iffland II, Allan E. Barnes, Marianna Baybis, Yu Liu, Gustavo Patino, Shivanshi Vaid, Alexandra M. Streicher, Whitney E. Parker, Seonhee Kim, Uk Yeol Moon, Frederick E. Henry, Geoffrey G. Murphy, Michael Sutton, Jack M. Parent, Peter B. Crino
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
mTORopathies are a heterogeneous group of neurological disorders characterized by malformations of cortical development (MCD), enhanced cellular mechanistic target of rapamycin (mTOR) signaling, and epilepsy that results from mutations in mTOR pathwa
Externí odkaz:
https://doaj.org/article/53413016f1094d83a21051ee639df779
Autor:
Philip H. Iffland, II, Marianna Baybis, Allan E. Barnes, Richard J. Leventer, Paul J. Lockhart, Peter B. Crino
Publikováno v:
Neurobiology of Disease, Vol 114, Iss , Pp 184-193 (2018)
Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development (MCD). Brain specimens from these individuals reveal abnormal cortical lamination, altered ce
Externí odkaz:
https://doaj.org/article/d96a4bc055504f58a5b144f60abff0d5
Autor:
James D. Mills, Anand M. Iyer, Jackelien van Scheppingen, Anika Bongaarts, Jasper J. Anink, Bart Janssen, Till S. Zimmer, Wim G. Spliet, Peter C. van Rijen, Floor E. Jansen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Jansen, Lieven Lagae, Paolo Curatolo, David J. Kwiatkowski, R. Jeroen Pasterkamp, Ketharini Senthilkumar, Lars von Oerthel, Marco F. Hoekman, Jan A. Gorter, Peter B. Crino, Angelika Mühlebner, Brendon P. Scicluna, Eleonora Aronica
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC1 or TSC2 genes leading to constitutive activation of the mechanistic target of rapamycin complex 1 (mTORC1). TSC is associated with autism, i
Externí odkaz:
https://doaj.org/article/201057c7a40346ccbc3ef966170890fc
Autor:
Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M McKhann, James E Goldman, Peter Canoll, Allyson L Alexander, Kristen L Park, Gretchen K Von Allmen, Olga Rodziyevska, Meenakshi B Bhattacharjee, Hart G W Lidov, Hannes Vogel, Gerald A Grant, Brenda E Porter, Annapurna H Poduri, Peter B Crino, Erin L Heinzen
Publikováno v:
Brain
Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b668f913d3777727e5607d37b9cf55d9
https://doi.org/10.1093/brain/awac117
https://doi.org/10.1093/brain/awac117
Publikováno v:
Neurobiology of Disease, Vol 85, Iss , Pp 144-154 (2016)
Background and purpose: Mammalian target of rapamycin (mTOR) pathway signaling governs cellular responses to hypoxia and inflammation including induction of autophagy and cell survival. Cerebral palsy (CP) is a neurodevelopmental disorder linked to h
Externí odkaz:
https://doaj.org/article/f95e3104c3ba404199fff16013856074
Publikováno v:
Hum Mol Genet
The multi-systemic genetic disorder tuberous sclerosis complex (TSC) impacts multiple neurodevelopmental processes including neuronal morphogenesis, neuronal migration, myelination and gliogenesis. These alterations contribute to the development of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce0af066c8053a4dca7cbc3fb53fd64c
https://doi.org/10.1093/hmg/ddab374
https://doi.org/10.1093/hmg/ddab374