Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Alex Nemiroff"'
Autor:
Miaomiao Mao, Cristiana Mattei, Ben Rollo, Sean Byars, Claire Cuddy, Geza Berecki, Jacqueline Heighway, Svenja Pachernegg, Trevelyan Menheniott, Danielle Apted, Linghan Jia, Kelley Dalby, Alex Nemiroff, Saul Mullen, Christopher A. Reid, Snezana Maljevic, Steven Petrou
SCN2Aencodes NaV1.2, an excitatory neuron voltage-gated sodium channel and major monogenic cause of neurodevelopmental disorders, including developmental and epileptic encephalopathies (DEE) and autism. Clinical presentation and pharmocosensitivity v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c109162970dd262c7075eb176feae510
https://doi.org/10.1101/2023.02.14.528217
https://doi.org/10.1101/2023.02.14.528217
Autor:
Snezana Maljevic, Lisa Drew, Linghan Jia, Kelley Dalby, Melody Li, Svenja Pachernegg, Alex Nemiroff, Armand Soriano, Lisseth Estefania Burbano, Paymaan Jafar-Nejad, Nikola Jancovski, Frank Rigo, Steven Petrou, Blaine R. Roberts, Ben Rollo, Alicia Sedo, Kay L. Richards, Jacqueline Heighway, Todd Blackburn, Christopher A. Reid
Publikováno v:
J Clin Invest
Epilepsy is the neurological disorder defined by spontaneous recurrent seizures, which are abnormal patterns of electrical discharge in the brain. A major advance in neurology over the last 20 years is the identification of genetic variation as an im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57423a77538807e27d047e94a53f263a
https://europepmc.org/articles/PMC8631599/
https://europepmc.org/articles/PMC8631599/
Autor:
Kay L. Richards, Lisa Drew, Linghan Jia, Alicia Sedo, Todd Blackburn, Snezana Maljevic, Blaine R. Roberts, Christopher A. Reid, Frank Rigo, Lisseth Estefania Burbano, Nikola Jancovski, Ben Rollo, Kelley Dalby, Paymaan Jafar-Nejad, Armand Soriano, Svenja Pachernegg, Alex Nemiroff, Melody Li, Steven Petrou
The clinical spectrum associated with SCN2A de novo mutations (DNMs) continues to expand and includes autism spectrum disorder with or without seizures, in addition to early and late seizure onset developmental and epileptic encephalopathies (DEEs).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c877e91548c11be57330fadfe50eaa58
https://doi.org/10.1101/2020.09.09.289900
https://doi.org/10.1101/2020.09.09.289900
Autor:
Miaomiao Mao, Mattei, Cristiana, Rollo, Ben, Byars, Sean, Cuddy, Claire, Berecki, Geza, Heighway, Jacqueline, Pachernegg, Svenja, Menheniott, Trevelyan, Apted, Danielle, Linghan Jia, Dalby, Kelley, Nemiroff, Alex, Mullen, Saul, Reid, Christopher A., Maljevic, Snezana, Petrou, Steven
Publikováno v:
Journal of Neuroscience; 2/21/2024, Vol. 44 Issue 8, p1-16, 16p
Publikováno v:
Fair Disclosure Wire (Quarterly Earnings Reports). 06/08/2021.
Publikováno v:
WWD: Women's Wear Daily. 2/24/2015, Vol. 209 Issue 39, p1-1. 1p.
Publikováno v:
WWD: Women's Wear Daily. 5/21/2012, Vol. 203 Issue 105, p2b-1. 1p.