Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Albert Sanfeliu"'
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
Autor:
Snow Bach, Niamh M. Ryan, Paolo Guasoni, Aiden P. Corvin, Rania A. El-Nemr, Danyal Khan, Albert Sanfeliu, Daniela Tropea
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Abstract MECP2 and its product, Methyl-CpG binding protein 2 (MeCP2), are mostly known for their association to Rett Syndrome (RTT), a rare neurodevelopmental disorder. Additional evidence suggests that MECP2 may underlie other neuropsychiatric and n
Externí odkaz:
https://doaj.org/article/892f713a12fe47c58b87bf791fac1f20
Publikováno v:
Frontiers in Psychiatry, Vol 10 (2019)
Rett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abnormalities, and seizures. The clinical presentation is typically associated to mutations in the gene cod
Externí odkaz:
https://doaj.org/article/11a2fe2146c24cb0a40dd4b0e09836c0
Autor:
Mona Heiland, Niamh M. C. Connolly, Ngoc T. Nguyen, Jaideep C. Kesavan, Kevin Fanning, Albert Sanfeliu, Yan Yan, Morten T. Venø, Lara S. Costard, Valentin Neubert, Thomas D. M. Hill, Felix Rosenow, Sebastian Bauer, Jørgen Kjems, Gareth Morris, David C. Henshall
There remains an urgent need for new therapies for drug-resistant epilepsy (DRE). Sodium channel blockers are effective for seizure control in common forms of epilepsy, but loss of sodium channel function underlies some genetic forms of epilepsy. App
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4289406f63ac047df965b97174eac70
https://doi.org/10.1101/2022.09.29.510105
https://doi.org/10.1101/2022.09.29.510105
Autor:
Albert Sanfeliu, Danyal Khan, Niamh M. Ryan, Rania A. El-Nemr, Aiden Corvin, Snow Bach, Paolo Guasoni, Daniela Tropea
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports
Scientific Reports
MECP2 and its product, Methyl-CpG binding protein 2 (MeCP2), are mostly known for their association to Rett Syndrome (RTT), a rare neurodevelopmental disorder. Additional evidence suggests that MECP2 may underlie other neuropsychiatric and neurologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c1b983967c8855a3c5ad252085b7df
https://hdl.handle.net/11585/855387
https://hdl.handle.net/11585/855387
Publikováno v:
Frontiers in Psychiatry
Rett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abnormalities, and seizures. The clinical presentation is typically associated to mutations in the gene cod
Rett Syndrome (RTT) is a neurological disorder mainly associated with mutations in the X-linked gene coding for the methyl-CpG binding protein 2 (MECP2). To assist in studying MECP2's function, researchers have generated Mecp2 mouse mutants showing t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2067be8ac8742fc6500c6267ea466569
http://hdl.handle.net/11585/855637
http://hdl.handle.net/11585/855637
Publikováno v:
Neuroscience. 325:89-99
Insulin-Like Growth Factor 1 (IGF-1) is a phylogenetically ancient neurotrophic hormone with crucial roles to play in CNS development and maturation. Recently, IGF-1 has been shown to have potent effects on cellular neuroplasticity. Neuroplasticty re
Autor:
Kevin J. Mitchell, Stephen Shovlin, Michael Gill, Albert Sanfeliu, Aiden Corvin, Donna McAllister, Niall Mortimer, Stefania Bellini, Ines Molinos, Daniela Tropea
Publikováno v:
Neuroscience Letters. 621:111-116
Methyl-CpG binding protein 2 (MECP2) is a chromosome-binding protein that regulates the development and maintenance of brain circuits. Altered function of the protein product of MECP2 plays an important role in the etiology of many neurodevelopmental
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Universitat Autònoma de Barcelona
instname
Universitat Autònoma de Barcelona
Change detection is the most important task for video surveillance analytics such as foreground and anomaly detection. Current foreground detectors learn models from annotated images since the goal is to generate a robust foreground model able to det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25d82aac336d38cacfad2cafadf0832b
http://hdl.handle.net/11578/237497
http://hdl.handle.net/11578/237497