Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Ping Yee Billie Au"'
Autor:
Sophie vonBrauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 497-508 (2023)
Abstract Objective The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing
Externí odkaz:
https://doaj.org/article/4fb452d9a8a04925b6c0834c25eac553
Autor:
Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
Motile and non-motile cilia have distinct functions and protein complexes associated with them. Here, the authors show the conserved protein CFAP20 is important for both motile and non-motile cilia and is distinct from other ciliopathy-associated dom
Externí odkaz:
https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61
Autor:
Quentin Plumereau, Aya Ebdalla, Hugo Poulin, Juan Pablo Appendino, Morris H. Scantlebury, Ping Yee Billie Au, Mohamed Chahine
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. SCN1A encodes NaV1.1, a neuronal voltage-gated Na+ channel that is highly expressed throughout the central nervous system. NaV1.1 is localized within
Externí odkaz:
https://doaj.org/article/afc4011b45dd422dae83232bed6bea5c
Autor:
Wen-Hann Tan, Katherine Anderson, Anjali Sadhwani, Ping Yee Billie Au, Carlos Bacino, Elizabeth Berry-Kravis, Cyrus Boelman, Robert Carson, Margaret DeRamus, Jessica Duis, Kara Murias, Cesar Ochoa-Lubinoff, Sarika Peters, Erick Sell, Steven Skinner, Amy Talboy, Anne Wheeler, Logan Wink, Angela Gwaltney, Lynne Bird
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100116- (2023)
Externí odkaz:
https://doaj.org/article/31f6403e7e4f4b06b0e46f779dc90e04
Autor:
Tatiana Maroilley, Nicola A. M. Wright, Catherine Diao, Linda MacLaren, Gerald Pfeffer, Justyna R. Sarna, Ping Yee Billie Au, Maja Tarailo-Graovac
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ataxia–telangiectasia (AT) is a complex neurodegenerative disease with an increased risk for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in ATM, which encodes a phosphatidylinositol 3-kinase that responds
Externí odkaz:
https://doaj.org/article/0da7af0c6dbb48f197c965836205d610
Autor:
Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance
Publikováno v:
Journal of Medical Genetics. 60:523-532
Purpose and scopeThe aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically, patients with global devel
Autor:
Sophie von Brauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
OBJECTIVE: The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing approac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ab6a82573bccbe0b148f2e820a5a7b
http://edoc.mdc-berlin.de/23196/2/23196suppl.zip
http://edoc.mdc-berlin.de/23196/2/23196suppl.zip
Autor:
Ping Yee Billie Au, Setareh Ashtiani, Marina Kerr, Juan Pablo Appendino, Paolo Federico, Karl Martin Klein, Aneal Khan, Christina Cherian, Christine P. Molnar
Publikováno v:
Journal of Neurology. 269:2162-2171
Pathogenic variants in KCNT1 have been associated with severe forms of epilepsy, typically sleep-related hypermotor epilepsy or epilepsy of infancy with migrating focal seizures. To show that pathogenic variants in KCNT1 can be associated with mild e
Publikováno v:
Clinical Genetics. 99:335-346
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions including intellectual disability, global developmental delay, autism spectrum disorder, and attention deficit hyperactivity disorder. Advances in genetic diagnostic technolo
Autor:
Xiao-Ru Yang, Vamsi Krishna Murthy Ginjupalli, Olivier Theriault, Hugo Poulin, Juan Pablo Appendino, Ping Yee Billie Au, Mohamed Chahine
Publikováno v:
J Neurophysiol
SCN2A encodes a voltage-gated sodium channel (Na(V)1.2) expressed throughout the central nervous system in predominantly excitatory neurons. Pathogenic variants in SCN2A are associated with epilepsy and neurodevelopmental disorders. Genotype-phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e342cdc9fa6448b9d69ef9bae01f20f
https://europepmc.org/articles/PMC9109789/
https://europepmc.org/articles/PMC9109789/