Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Orestes Solis"'
Autor:
Brynn Lape, Karen W. Gripp, Alex R. Paciorkowski, Wen-Hann Tan, Margot R.F. Reijnders, Diana Baralle, Bo Hoon Lee, Christopher J. Stodgell, Richard J. Leventer, Chin-To Fong, Wendy E. Smith, David Hunt, Eric D. Marsh, Emily Tuttle, Loisa Bennetto, Ahm M. Huq, Kelly Q. Minks, Stephanie A. Coury, Rupal I. Mehta, Orestes Solis, Oluwatobi Abubakare, Jennifer M. Kwon
Publikováno v:
American Journal of Medical Genetics. Part A, 176, 56-67
American Journal of Medical Genetics. Part A, 176, 1, pp. 56-67
American Journal of Medical Genetics. Part A, 176, 1, pp. 56-67
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e7395ffa3fc08d088f6e9f74f8b30b
https://doi.org/10.1002/ajmg.a.38521
https://doi.org/10.1002/ajmg.a.38521
Autor:
Ting Du, Hajime Hirase, Humberto Mestre, Orestes Solis, Amanda M. Sweeney, John H. Thomas, Poul G. Hjorth, Logan Bashford, Edna R Toro, Pablo Blinder, Frederik Filip Stæger, Andrew J. Samson, Peter A. R. Bork, Yuki Mori, Guojun Liu, Jeffrey Tithof, Erik A. Martens, Rupal I. Mehta, Kristian Nygaard Mortensen, David Kleinfeld, Weiguo Peng, Douglas H. Kelley
Publikováno v:
Mestre, H, Du, T, Sweeney, A M, Liu, G, Samson, A J, Peng, W, Mortensen, K N, Stæger, F F, Bork, P A R, Bashford, L, Toro, E R, Tithof, J, Kelley, D H, Thomas, J H, Hjorth, P G, Martens, E A, Mehta, R I, Solis, O, Blinder, P, Kleinfeld, D, Hirase, H, Mori, Y & Nedergaard, M 2020, ' Cerebrospinal fluid influx drives acute ischemic tissue swelling ', Science, vol. 367, no. 6483 . https://doi.org/10.1126/science.aax7171
Science
Science
Spreading edema after strokeThe brain is enveloped in a cushion of cerebrospinal fluid (CSF), which normally provides protection and helps to remove metabolic waste. CSF transport has also recently been shown to play unexpected roles in neurodegenera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeae722e66f115977aaba095837ef1d9
https://pubmed.ncbi.nlm.nih.gov/32165571
https://pubmed.ncbi.nlm.nih.gov/32165571