المؤلفون: Whitney, Robyn, Nair, Arjun, McCready, Elizabeth, Keller, Anne E., Adil, Ishita Siddiq, Aziz, Aly Shah, Borys, Oksana, Siu, Kaitlyn, Shah, Chintan, Meaney, Brandon F., Jones, Kevin, RamachandranNair, Rajesh

المصدر: In Seizure: European Journal of Epilepsy November 2021 92:221-229

المؤلفون: Petit-Pedrol, Mar, Armangue, Thaís, Peng, Xiaoyu, Bataller, Luis, Cellucci, Tania, Davis, Rebecca, McCracken, Lindsey, Martinez-Hernandez, Eugenia, Mason, Warren P, Kruer, Michael C, Ritacco, David G, Grisold, Wolfgang, Meaney, Brandon F, Alcalá, Carmen, Sillevis-Smitt, Peter, Titulaer, Maarten J, Balice-Gordon, Rita, Graus, Francesc, Dalmau, Josep

المصدر: In Lancet Neurology March 2014 13(3):276-286

المؤلفون: Rychkov, Grigori Y., Shaukat, Zeeshan, Lim, Chiao Xin, Hussain, Rashid, Roberts, Ben J., Bonardi, Claudia M., Rubboli, Guido, Meaney, Brandon F., Whitney, Robyn, Møller, Rikke S., Ricos, Michael G., Dibbens, Leanne M.

المصدر: International Journal of Molecular Sciences; Dec2022, Vol. 23 Issue 23, p15133, 14p

مصطلحات موضوعية: SODIUM channels, GAIN-of-function mutations, ACTION potentials, NEURAL circuitry, EPILEPSY, GENETIC mutation

المؤلفون: Cömert, Cagla, Brick, Lauren, Ang, Debbie, Palmfeldt, Johan, Meaney, Brandon F., Kozenko, Mariya, Georgopoulos, Costa, Fernandez-Guerra, Paula, Bross, Peter

المصدر: Cold Spring Harbor Molecular Case Studies; 2020, Vol. 6 Issue 3, p1-12, 12p

مصطلحات موضوعية: DIAGNOSIS of neurological disorders, NUCLEOTIDE sequencing, LEUKODYSTROPHY, HEAT shock proteins, PHENOTYPES

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Ronen, Gabriel M., Meaney, Brandon F.

المصدر: Journal of Child Neurology; Mar2003, Vol. 18 Issue 3, p180-184, 5p, 3 Charts, 1 Graph, 1 Map

مصطلحات موضوعية: PEDIATRIC neurology, NEUROLOGY, PEDIATRICS, NEUROLOGICAL disorders, NEUROLOGISTS

مصطلحات جغرافية: CANADA

المؤلفون: Muhn, Narry, Baker, Steven K., Hollenberg, Robert D., Meaney, Brandon F., Tarnopolsky, Mark A.

المصدر: Journal of Clinical Neuromuscular Disease; March 2002, Vol. 3 Issue: 3 p133-134, 2p

المؤلفون: Grigori Y. Rychkov, Zeeshan Shaukat, Chiao Xin Lim, Rashid Hussain, Ben J. Roberts, Claudia M. Bonardi, Guido Rubboli, Brandon F. Meaney, Robyn Whitney, Rikke S. Møller, Michael G. Ricos, Leanne M. Dibbens

المساهمون: Rychkov, Grigori Y, Shaukat, Zeeshan, Lim, Chiao Xin, Hussain, Rashid, Roberts, Ben J, Bonardi, Claudia M, Rubboli, Guido, Meaney, Brandon F, Whitney, Robyn, Møller, Rikke S, Ricos, Michael G, Dibbens, Leanne M

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 23; Pages: 15133
Rychkov, G Y, Shaukat, Z, Lim, C X, Hussain, R, Roberts, B J, Bonardi, C M, Rubboli, G, Meaney, B F, Whitney, R, Møller, R S, Ricos, M G & Dibbens, L M 2022, ' Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity ', International Journal of Molecular Sciences, vol. 23, no. 23, 15133 . https://doi.org/10.3390/ijms232315133

مصطلحات موضوعية: gain-of-function mutations, Organic Chemistry, General Medicine, patch clamping, channelopathies, Catalysis, Computer Science Applications, Inorganic Chemistry, epilepsy, K+ channels, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, K channels

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::457184502f6a85b277ecd10eb5f5c133
https://hdl.handle.net/11541.2/32306

المؤلفون: Fogli A; INSERM Unité Mixte de Recherche 384, Faculté de Médecine, Clermont-Ferrand, France., Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O

المصدر: American journal of human genetics [Am J Hum Genet] 2003 Jun; Vol. 72 (6), pp. 1544-50. Date of Electronic Publication: 2003 Apr 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Eukaryotic Initiation Factor-2/*genetics , Primary Ovarian Insufficiency/*genetics, Age of Onset ; Female ; Humans ; Molecular Sequence Data ; Myelin Sheath/diagnostic imaging ; Myelin Sheath/physiology ; Primary Ovarian Insufficiency/diagnostic imaging ; Primary Ovarian Insufficiency/pathology ; Radiography ; Severity of Illness Index