Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Christopher J, Yuskaitis"'
Autor:
Chellamani Harini, Christopher J. Yuskaitis, Avantika Singh, Trevor McHugh, Shanshan Liu, Michelle DeLeo, Nishtha Gupta, Candice Marti, Bo Zhang, Mark H. Libenson, Jay G. Berry
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 444-455 (2023)
Abstract Objective To describe inpatient resource use in the 2 years following infantile epileptic spasms syndrome (IESS) diagnosis, examine the association between clinical/demographic variables and incidence of readmission, and identify risk factor
Externí odkaz:
https://doaj.org/article/4f30c3c46a9343f59ba7f76981d43659
Autor:
Christina Briscoe Abath, Narayan Chandra Saha, Seikh Azimul Hoque, Ariful Islam, Yamin Shahriar Chowdhury, Mosammat Shameem Ara Begum, Tahera Sultana Davalji Kanjiker, Christopher J. Yuskaitis, Chellamani Harini, Md Badrul Alam, Quazi Deen Mohammed, Maitreyi Mazumdar
Publikováno v:
Heliyon, Vol 9, Iss 3, Pp e14323- (2023)
Background: We describe patient characteristics and response to initial treatment in a large case series of children presenting with infantile epileptic spasms syndrome to a tertiary-care hospital with a pediatric neurology service in Bangladesh. The
Externí odkaz:
https://doaj.org/article/7e719a43d8c54a39ad00eb70de9118ba
Publikováno v:
Epilepsia Open, Vol 6, Iss 4, Pp 714-719 (2021)
Abstract Objective There is no consensus on the type or duration of the posttreatment EEG needed for assessing treatment response for infantile spasms (IS). We assessed whether outpatient electroencephalograms (EEGs) are sufficient to confirm infanti
Externí odkaz:
https://doaj.org/article/4c71c07f8f6e4300beeed08c5d541743
Autor:
Christopher J. Yuskaitis, Leigh‐Ana Rossitto, Karenna J. Groff, Sameer C. Dhamne, Bo Zhang, Lahin K. Lalani, Achint K. Singh, Alexander Rotenberg, Mustafa Sahin
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1388-1397 (2021)
Abstract Objective To confirm the critical factors affecting seizure susceptibility in acute pentylenetetrazole (PTZ) mouse epilepsy models and evaluate the prior literature for these factors. Methods Serial cohorts of wild‐type mice administered i
Externí odkaz:
https://doaj.org/article/017d06ddc55843abbeaf81a9da71de13
Autor:
Sandra Schrötter, Christopher J. Yuskaitis, Michael R. MacArthur, Sarah J. Mitchell, Aaron M. Hosios, Maria Osipovich, Margaret E. Torrence, James R. Mitchell, Gerta Hoxhaj, Mustafa Sahin, Brendan D. Manning
Publikováno v:
Cell Reports, Vol 39, Iss 7, Pp 110824- (2022)
Summary: The tuberous sclerosis complex (TSC) 1 and 2 proteins associate with TBC1D7 to form the TSC complex, which is an essential suppressor of mTOR complex 1 (mTORC1), a ubiquitous driver of cell and tissue growth. Loss-of-function mutations in TS
Externí odkaz:
https://doaj.org/article/a8d11e480e6448ff83b8e02eb07d3281
Autor:
Christopher J. Yuskaitis, Brandon M. Jones, Rachel L. Wolfson, Chloe E. Super, Sameer C. Dhamne, Alexander Rotenberg, David M. Sabatini, Mustafa Sahin, Annapurna Poduri
Publikováno v:
Neurobiology of Disease, Vol 111, Iss , Pp 91-101 (2018)
DEPDC5 is a newly identified epilepsy-related gene implicated in focal epilepsy, brain malformations, and Sudden Unexplained Death in Epilepsy (SUDEP). In vitro, DEPDC5 negatively regulates amino acid sensing by the mTOR complex 1 (mTORC1) pathway, b
Externí odkaz:
https://doaj.org/article/8d170fb56a97490b916b45841e461d6c
Autor:
Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A.J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M.E. Suzanne Lewis, Angie Lichty, Marcel M.A.M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema
Publikováno v:
Genetics in Medicine, 25, 1, pp. 49-62
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group
Contains fulltext : 290808.pdf (Publisher’s version ) (Open Access) PURPOSE: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e9527bbc3853240983032791841559
https://repository.ubn.ru.nl/handle/2066/290808
https://repository.ubn.ru.nl/handle/2066/290808
Autor:
Christopher J, Yuskaitis, John R, Mytinger, Fiona M, Baumer, Bo, Zhang, Shanshan, Liu, Debopam, Samanta, Shaun A, Hussain, Elissa G, Yozawitz, Cynthia G, Keator, Charuta, Joshi, Rani K, Singh, Sonal, Bhatia, Sonam, Bhalla, Renée, Shellhaas, Chellamani, Harini
Publikováno v:
Neurology
Background and Objective:Standard therapies (ACTH, oral steroids, or vigabatrin) fail to control infantile spasms in almost half of children. Early identification of non-responders could enable rapid initiation of sequential therapy. We aimed to dete
Autor:
Christopher J. Yuskaitis, Jinita B. Modasia, Sandra Schrötter, Leigh-Ana Rossitto, Karenna J. Groff, Christopher Morici, Divakar S. Mithal, Ram P. Chakrabarty, Navdeep S. Chandel, Brendan D. Manning, Mustafa Sahin
Publikováno v:
Cell reports. 40(9)
Caloric restriction and acute fasting are known to reduce seizures but through unclear mechanisms. mTOR signaling has been suggested as a potential mechanism for seizure protection from fasting. We demonstrate that brain mTORC1 signaling is reduced a
Autor:
Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J. Barkovich, Yang Cao, Marina DiStefano, Michael Evenson, Renzo Guerrini, Devon Knight, Yi-Shan Lee, Heather C. Mefford, David T. Miller, Ghayda Mirzaa, Ganesh Mochida, Lance H. Rodan, Mayher Patel, Lacey Smith, Sara Spencer, Christopher A. Walsh, Edward Yang, Christopher J. Yuskaitis, Timothy Yu, Annapurna Poduri, Christelle Achkar, James Barkovich, Jamel Chelly, Elizabeth Engle, William Hong, Hyunyong Koh, Rhonda Lassiter, Eric Marsh, Rebecca Pinsky, Catherine Shain, Bo Yuan, Christopher Yuskaitis
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of distinct developmental abnormalities. Accurate classification of somatic variants in this group of disorders is crucial for affected individuals and their families.The ClinG