Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Joana Augusto"'
Autor:
Aoife Campbell, Gareth Morris, Albert Sanfeliu, Joana Augusto, Elena Langa, Jaideep C. Kesavan, Ngoc T. Nguyen, Ronan M. Conroy, Jesper Worm, Lukasz Kielpinski, Mads Aaboe Jensen, Meghan T. Miller, Thomas Kremer, Cristina R. Reschke, David C. Henshall
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 28, Iss , Pp 514-529 (2022)
Angelman syndrome (AS) is a severe neurodevelopmental disorder featuring ataxia, cognitive impairment, and drug-resistant epilepsy. AS is caused by mutations or deletion of the maternal copy of the paternally imprinted UBE3A gene, with current precis
Externí odkaz:
https://doaj.org/article/9cfd00cc33fa406da3ff7352a705c687
Publikováno v:
The Journal of physiologyReferences.
Optimal performance of the central nervous system (CNS) depends on dynamic, multidirectional communication between different cell types both within and without the CNS to maintain the homeostatic environment. Ageing, in turn, is associated with CNS d
Autor:
Joana Augusto, Ana Margarida Póvoa
Publikováno v:
European journal of obstetrics, gynecology, and reproductive biology. 276
The number of pregnancies achieved through gamete donation has escalated over the last decades. It has been hypothesized that double gamete donation pregnancies would have a higher risk of preeclampsia compared to single gamete donation pregnancies d
Autor:
Rogério R. Gerbatin, Joana Augusto, Gareth Morris, Aoife Campbell, Jesper Worm, Elena Langa, Cristina R. Reschke, David C. Henshall
Publikováno v:
eNeuro. 9(5)
Dravet syndrome (DS) is a catastrophic form of pediatric epilepsy mainly caused by noninherited mutations in theSCN1Agene. DS patients suffer severe and life-threatening focal and generalized seizures which are often refractory to available anti-seiz
ObjectiveDravet Syndrome (DS) is a catastrophic form of paediatric epilepsy associated with multiple comorbidities mainly caused by mutations in the SCN1A gene. DS progresses in three different phases termed febrile, worsening and stabilization stage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbfd18a5bdad2558d05ea964cb858615
https://doi.org/10.1101/2021.08.27.457904
https://doi.org/10.1101/2021.08.27.457904
Autor:
Rogério R, Gerbatin, Joana, Augusto, Halima, Boutouil, Cristina R, Reschke, David C, Henshall
Publikováno v:
Experimental Neurology. 354:114090
Dravet Syndrome (DS) is a catastrophic form of paediatric epilepsy associated with multiple comorbidities mainly caused by mutations in the SCN1A gene. DS progresses in three different phases termed febrile, worsening and stabilization stage. Mice th
Autor:
José Barbosa, Beatriz Pinho, Rafaela Coelho da, Margarida Lopes Ferreira, Tiago Trindade, Joana Augusto, Carolina Pinto da, Sara Castanheira Rodrigues
Publikováno v:
Surgery, Gastroenterology and Oncology. 27:241
Autor:
Joana Augusto, Katie Kowarski
Publikováno v:
Aquatic Mammals. 40:117-125