Zobrazeno 1 - 10
of 361
pro vyhledávání: '"Robert L Macdonald"'
Autor:
Shanqing Cai, Subhashini Venugopalan, Katie Seaver, Xiang Xiao, Katrin Tomanek, Sri Jalasutram, Meredith Ringel Morris, Shaun Kane, Ajit Narayanan, Robert L. MacDonald, Emily Kornman, Daniel Vance, Blair Casey, Steve M. Gleason, Philip Q. Nelson, Michael P. Brenner
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Accelerating text input in augmentative and alternative communication (AAC) is a long-standing area of research with bearings on the quality of life in individuals with profound motor impairments. Recent advances in large language models (LL
Externí odkaz:
https://doaj.org/article/028c427245d94b0b92a7319f9750017f
Autor:
Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162883 (2016)
Genetic epilepsies (GEs) account for approximately 50% of all seizure disorders, and familial forms include mutations in single GABAA receptor subunit genes (GABRs). In 144 sporadic GE cases (GECs), exome sequencing of 237 ion channel genes identifie
Externí odkaz:
https://doaj.org/article/e4749655adbe41d18d590c934e3b69c1
Autor:
Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0167264 (2016)
[This corrects the article DOI: 10.1371/journal.pone.0162883.].
Externí odkaz:
https://doaj.org/article/587cc38d85b04c37ac189bc86bfa47ab
Publikováno v:
Biomolecules, Vol 13, Iss 12, p 1790 (2023)
Variants in the GABRB gene, which encodes the β subunit of the GABAA receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are of
Externí odkaz:
https://doaj.org/article/9a0837e3da4f4e31a92284985a43ac8f
Autor:
Ciria C. Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L. Macdonald
Publikováno v:
Biomolecules, Vol 13, Iss 3, p 414 (2023)
Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. FS is a self-limited type of fever-related seizure. However, complicated prolonged FS can lead to complex partial epilepsy. We found that
Externí odkaz:
https://doaj.org/article/271466ba61d9486ca7466edf78a88a4b
Autor:
Shimian Qu, Chengwen Zhou, Rachel Howe, Wangzhen Shen, Xuan Huang, Mackenzie Catron, Ningning Hu, Robert L. Macdonald
Publikováno v:
Neurobiology of Disease, Vol 152, Iss , Pp 105296- (2021)
Externí odkaz:
https://doaj.org/article/2fa6179ab74a4364a0742dd877e8a641
Autor:
Shimian Qu, Laurel G. Jackson, Chengwen Zhou, DingDing Shen, Wangzhen Shen, Gerald Nwosu, Rachel Howe, Mackenzie A. Catron, Carson Flamm, Marshall Biven, Jing‐Qiong Kang, Robert L. Macdonald
Publikováno v:
Epilepsia. 64:1061-1073
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b6421c5ef240daffd63b946cef35611
https://doi.org/10.1111/epi.17470
https://doi.org/10.1111/epi.17470
Autor:
Ryan J. Delahanty, Yanfeng Zhang, Terry Jo Bichell, Wangzhen Shen, Kelienne Verdier, Robert L. Macdonald, Lili Xu, Kelli Boyd, Janice Williams, Jing-Qiong Kang
Publikováno v:
Cell Reports, Vol 17, Iss 12, Pp 3115-3124 (2016)
Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2. Mutations in GABRB
Externí odkaz:
https://doaj.org/article/9360cead1ab948aa8eee1fd9048e1591
Autor:
Shimian, Qu, Laurel G, Jackson, Chengwen, Zhou, DingDing, Shen, Wangzhen, Shen, Gerald, Nwosu, Rachel, Howe, Mackenzie, Caltron, Carson, Flamm, Marshall, Biven, Jing-Qiong, Kang, Robert L, Macdonald
Publikováno v:
Epilepsia.
Infantile spasms are anis an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown.We generated a heterozygous knock-in mouse with the human infantile spasms-associated de novo mutation GABRB3(c.A328G, p.N110D) to investig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::22c98efa4844ddc1c379c35d975ffd61
https://pubmed.ncbi.nlm.nih.gov/36495145
https://pubmed.ncbi.nlm.nih.gov/36495145
Autor:
Emily Todd, Katharine N. Gurba, Emmanuel J. Botzolakis, Aleksandar K. Stanic, Robert L. Macdonald
Publikováno v:
Neurobiology of Disease, Vol 69, Iss , Pp 215-224 (2014)
A missense mutation in the GABAA receptor γ2L subunit, R177G, was reported in a family with complex febrile seizures (FS). To gain insight into the mechanistic basis for these genetic seizures, we explored how the R177G mutation altered the properti
Externí odkaz:
https://doaj.org/article/95f7705f429f46698ce8387696e9d65d