Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Elena V. Gazina"'
Autor:
Lisseth Estefania Burbano, Melody Li, Nikola Jancovski, Paymaan Jafar-Nejad, Kay Richards, Alicia Sedo, Armand Soriano, Ben Rollo, Linghan Jia, Elena V. Gazina, Sandra Piltz, Fatwa Adikusuma, Paul Q. Thomas, Helen Kopsidas, Frank Rigo, Christopher A. Reid, Snezana Maljevic, Steven Petrou
Publikováno v:
JCI Insight, Vol 7, Iss 23 (2022)
Developmental and epileptic encephalopathies (DEEs) are characterized by pharmaco-resistant seizures with concomitant intellectual disability. Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe of these syndromes. De
Externí odkaz:
https://doaj.org/article/94df65e871214a28a1b39d45e79f1372
Publikováno v:
Stem Cell Research, Vol 23, Iss C, Pp 143-153 (2017)
The birth of new neurons, or neurogenesis, in the adult midbrain is important for progressing dopamine cell-replacement therapies for Parkinson's disease. Most studies suggest newborn cells remain undifferentiated or differentiate into glia within th
Externí odkaz:
https://doaj.org/article/3d0eebe6a50a40e5aefc146eebc4a375
Autor:
Alicia Sedo, Snezana Maljevic, Fatwa Adikusuma, Christopher A. Reid, Nikola Jancovski, Sandra Piltz, Kay L. Richards, Lisseth Estefania Burbano, Paul Q. Thomas, Steven Petrou, Benjamin N. Rollo, Paymaan Jafar-Nejad, Elena V. Gazina, Melody Li, Frank Rigo, Linghan Jia, Armand Soriano
Developmental and epileptic encephalopathies (DEE) are characterized by pharmacoresistant seizures with concomitant intellectual disability. Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe of these syndromes. De no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0fb43150df2e302c8c686d2ce2a913c
https://doi.org/10.1101/2020.11.12.379164
https://doi.org/10.1101/2020.11.12.379164
Autor:
Joseph Chen, Elena V. Gazina, Martin F. Pera, Emma Morrisroe, Christian M. Nefzger, Steven Petrou, Benjamin N. Rollo, Gunarathna D.C. Mendis, Christopher A. Reid, Anna E. Michalska
Publikováno v:
Journal of Neuroscience Methods. 293:53-58
Background: Stem cells-derived neuronal cultures hold great promise for in vitro disease modelling and drug screening. However, currently stem cells-derived neuronal cultures do not recapitulate the functional properties of primary neurons, such as n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec66c190a50b18fe99cff3788bf82b77
https://doi.org/10.1016/j.jneumeth.2017.08.018
https://doi.org/10.1016/j.jneumeth.2017.08.018
Publikováno v:
Stem Cell Research, Vol 23, Iss C, Pp 143-153 (2017)
The birth of new neurons, or neurogenesis, in the adult midbrain is important for progressing dopamine cell-replacement therapies for Parkinson's disease. Most studies suggest newborn cells remain undifferentiated or differentiate into glia within th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3283f7f194be7373f44fe9014244e19
http://www.sciencedirect.com/science/article/pii/S1873506117301253
http://www.sciencedirect.com/science/article/pii/S1873506117301253
Autor:
Adam L. Numis, Akash R. Patel, Anita N Datta, Umesh Nair, Elena V. Gazina, Steven Petrou, Melody Li, Tristan T. Sands, Maria Roberta Cilio, Michael S. Oldham
Publikováno v:
Epilepsia, Vol. 59, no.10, p. 1889-1898 (2018)
Objective To evaluate the clinical efficacy and safety of quinidine in patients with KCNT1-related epilepsy of infancy with migrating focal seizures (EIMFS) in the infantile period and to compare with the effect of quinidine on mutant channels in vit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::860979b3ca4a50437f83f52f23ce2850
https://pubmed.ncbi.nlm.nih.gov/30182418
https://pubmed.ncbi.nlm.nih.gov/30182418
Autor:
Elena V. Gazina, Barbara Beyer, Steven Petrou, Tracy C. McGarr, D I Kaplan, L Cordeiro, Megan Oliva, Evan A. Thomas, Sulayman D. Dib-Hajj, Stephen G. Waxman, Wayne N. Frankel
Publikováno v:
Neurobiology of Disease, Vol 67, Iss, Pp 180-190 (2014)
In excitatory neurons, SCN2A (NaV1.2) and SCN8A (NaV1.6) sodium channels are enriched at the axon initial segment. NaV1.6 is implicated in several mouse models of absence epilepsy, including a missense mutation identified in a chemical mutagenesis sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a85dcee1f433f6ff6f9888efbdbfd8ec
https://doi.org/10.1016/j.nbd.2014.03.007
https://doi.org/10.1016/j.nbd.2014.03.007
Autor:
Donald P. Younkin, Christopher A. Reid, Carol J. Milligan, Dennis J. Dlugos, Chantel Trager, Melody Li, Steven Petrou, Sarah E. Heron, Anu Venkat, Umesh Nair, Samuel F. Berkovic, Ingrid E. Scheffer, Slavé Petrovski, David Goldstein, Elena V. Gazina, Leanne M. Dibbens
Publikováno v:
Annals of Neurology. 75:581-590
Objective Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal seizures (EIMFS). More recently, a whole exome sequencing study of epileptic encephalopathie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d74c9ff6bd7ec82348498d0e80683978
https://doi.org/10.1002/ana.24128
https://doi.org/10.1002/ana.24128
Autor:
John A. Damiano, Yvonne G. Weber, Snezana Maljevic, Ingrid E. Scheffer, Christopher A. Reid, Michael S. Hildebrand, Slavé Petrovski, Steven Petrou, Elena V. Gazina, Saul A. Mullen, Stéphane Auvin, Sasha M. Zaman, Holger Lerche, Gabriel Davis Jones, A. Marie Phillips, Samuel F. Berkovic
Publikováno v:
Neurology: Genetics
ObjectiveTo examine the genotype to phenotype connection in glucose transporter type 1 (GLUT1) deficiency and whether a simple functional assay can predict disease outcome from genetic sequence alone.MethodsGLUT1 deficiency, due to mutations in SLC2A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a441933e5ea25e618cbd708ace2b5490
https://doi.org/10.1212/nxg.0000000000000297
https://doi.org/10.1212/nxg.0000000000000297
Autor:
Steven Petrou, Elena V. Gazina
Publikováno v:
Drug Discovery Today
Highlights ► Acylguanidines are a new class of antiviral compounds, targeting diverse proteins of viruses from different families. ► BIT225 is the first acylguanidine in clinical trials against human immunodeficiency virus type 1 and hepatitis C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840e6ea0f643cc1edac4f0e30f5d4a6e
http://europepmc.org/articles/PMC7108427
http://europepmc.org/articles/PMC7108427