Zobrazeno 1 - 10
of 76
pro vyhledávání: '"EFHC1"'
Autor:
Aslan-Kara, Kezban a, 1, ⁎, Dündar-Yenilmez, Ebru b, 1, Ateş, Elçin a, Alparslan, Mustafa Muhlis c, Peköz, Taylan a, Bozdemir, Hacer a, Tuli, Abdullah b
Publikováno v:
In Seizure: European Journal of Epilepsy January 2024 114:79-83
Publikováno v:
Türk Nöroloji Dergisi, Vol 25, Iss 4, Pp 233-236 (2019)
Juvenile myoclonic epilepsy (JME), characterized by predominating myoclonic seizures, is one of the most common forms of genetic generalized epilepsy. Genetic studies in JME reported susceptibility associated with EFHC1 gene. A 26-year-old male patie
Externí odkaz:
https://doaj.org/article/213ca41ea7f946eabc9fed63b80090ec
Akademický článek
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Autor:
Catrina M Loucks, Kwangjin Park, Denise S Walker, Andrea H McEwan, Tiffany A Timbers, Evan L Ardiel, Laura J Grundy, Chunmei Li, Jacque-Lynne Johnson, Julie Kennedy, Oliver E Blacque, William Schafer, Catharine H Rankin, Michel R Leroux
Publikováno v:
eLife, Vol 8 (2019)
Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and cellular signaling. Yet, the roles of cilia in these neurons are poorly understood. To shed light into their functions, we stu
Externí odkaz:
https://doaj.org/article/187f16f490b2476e89b17a0470140d3f
Autor:
Sassonia, Rogério C
Publikováno v:
Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Orientador: Marcelo Ganzarolli de Oliveira Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Quimica Resumo: Este trabalho apresenta os resultados da aplicação da titulação calorimétrica isotérmica na caracterização termodin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77591d32626bf46fb6186dd1404d3627
https://doi.org/10.47749/t/unicamp.2009.475756
https://doi.org/10.47749/t/unicamp.2009.475756
Publikováno v:
Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Orientador: Iscia Teresinha Lopes Cendes Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas Resumo: As epilepsias são distúrbios cerebrais caracterizados por uma predisposição persistente para a geração de cri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c39aa0178a609f12d05cf9bc357ff2e4
https://doi.org/10.47749/t/unicamp.2013.912062
https://doi.org/10.47749/t/unicamp.2013.912062
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Manjari Tripathi, Bhargavi Ramanujam, Kavish Itisham, Shivani Srivastava, Kripamoy Aguan, Romita Thounaojam, Roohollah Sobhani, Ramesh Verma, Leader Langbang
Publikováno v:
Epilepsia Open
Summary Objective Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGEs) and is genetically heterogeneous. Mutations in EFHC1 cause JME. Because about 2 million people in India are affected by JME alone,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20842916d09f2d97649fdd4a23ba2c31
https://doi.org/10.1002/epi4.12037
https://doi.org/10.1002/epi4.12037
Autor:
Denise S. Walker, Chunmei Li, Catharine H. Rankin, Julie Kennedy, Laura J Grundy, Kwangjin Park, Catrina M. Loucks, Jacque-Lynne Johnson, Evan L. Ardiel, Andrea H. McEwan, Oliver E. Blacque, William R Schafer, Michel R. Leroux, Tiffany A. Timbers
Publikováno v:
eLife, Vol 8 (2019)
eLife
eLife
Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and cellular signaling. Yet, the roles of cilia in these neurons are poorly understood. To shed light into their functions, we stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49af61722ad40eb95f5c8e3ad62606cd
https://elifesciences.org/articles/37271
https://elifesciences.org/articles/37271
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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