Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Thierry Grisar"'
Autor:
Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
ABSTRACT Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrat
Externí odkaz:
https://doaj.org/article/ec39990f9d6c40aa8b1c45daed7fc1fa
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the most common of genetic generalized epilepsy syndromes. JME is characterized by awakening myoclonic jerks and myoclonic-tonic-clonic (m-t-c) grand mal convul
Externí odkaz:
https://doaj.org/article/6cafc5c2679a4c95a646216250a0815e
Autor:
Gerry Nganou, Carla G. Silva, Ivan Gladwyn-Ng, Dominique Engel, Bernard Coumans, Antonio V. Delgado-Escueta, Miyabi Tanaka, Laurent Nguyen, Thierry Grisar, Laurence de Nijs, Bernard Lakaye
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
The building of the brain is a multistep process that requires the coordinate expression of thousands of genes and an intense nucleocytoplasmic transport of RNA and proteins. This transport is mediated by karyopherins that comprise importins and expo
Externí odkaz:
https://doaj.org/article/edb77971962f4dd288a9318616e0eec4
Autor:
Marjorie Gangolf, Jan Czerniecki, Marc Radermecker, Olivier Detry, Michelle Nisolle, Caroline Jouan, Didier Martin, Frédéric Chantraine, Bernard Lakaye, Pierre Wins, Thierry Grisar, Lucien Bettendorff
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13616 (2010)
BACKGROUND: Thiamine (vitamin B1) is an essential molecule for all life forms because thiamine diphosphate (ThDP) is an indispensable cofactor for oxidative energy metabolism. The less abundant thiamine monophosphate (ThMP), thiamine triphosphate (Th
Externí odkaz:
https://doaj.org/article/2a66a6bfc27142f0b082163f693e0c78
Autor:
Vincent Seutin, Thierry Grisar, Katrien Stouffs, Kevin Jehasse, Alice de Froidmont, Camille Lemoine, Kathleen Jacquerie, Bernard Lakaye
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b822773584624baa0de27a4a940371
https://doaj.org/article/ec39990f9d6c40aa8b1c45daed7fc1fa
https://doaj.org/article/ec39990f9d6c40aa8b1c45daed7fc1fa
Autor:
Michel Van Zandijcke, Paul Boon, Michel Ossemann, Kenou van Rijckevorsel, Karine K. Geens, Alfred Meurs, Berten Ceulemans, Thierry Grisar, Lieven Lagae, Daniëlla D. Wagemans, Pascal Vrielynck, Thomas Coppens, Henri Hauman, Leon Mol, Benjamin Legros
Publikováno v:
Seizure: European journal of epilepsy
Background: Given the continuous knowledge progression and the growing number of available antiepileptic drugs (AEDs), making appropriate treatment choices for patients with epilepsy is increasingly difficult. While published guidelines help for sepa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a98b4897b1e0ff02ec02c73cc3d848
https://doi.org/10.1016/j.seizure.2011.09.007
https://doi.org/10.1016/j.seizure.2011.09.007
Autor:
Thierry Grisar, Pascal Ravassard, Bernard Lakaye, Bastien Pachoud, Pierre-Hervé Luppi, Antoine Roger Adamantidis, Paul-Antoine Salin
Publikováno v:
Journal of Neurophysiology. 104:1417-1425
The hypothalamic neuropeptide melanin-concentrating hormone (MCH) plays important roles in energy homeostasis, anxiety, and sleep regulation. Since the MCH receptor-1 (MCH-R1), the only functional receptor that mediates MCH functions in rodents, faci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::604adb99861880f8d23d7b5e8c89ecf1
https://doi.org/10.1152/jn.01052.2009
https://doi.org/10.1152/jn.01052.2009
Autor:
Thierry Grisar, Laurence de Nijs, Grazyna Chanas, Antonio V. Delgado-Escueta, Bernard Lakaye, Christine Léon
Publikováno v:
Epilepsy Research. 88:196-207
EFHC1, a gene mutated in juvenile myoclonic epilepsy, encodes EFHC1, a protein with three DM10 domains and one EF-hand motif. We recently demonstrated that this molecule is a microtubule-associated protein (MAP) implicated in neuronal migration. Beca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39f548823aad612d6751e8be62fde30
https://doi.org/10.1016/j.eplepsyres.2009.11.009
https://doi.org/10.1016/j.eplepsyres.2009.11.009
Autor:
Bernard Lakaye, Joseph J. LoTurco, Thierry Grisar, Christine Léon, Antonio V. Delgado-Escueta, Laurence de Nijs, Laurent Nguyen
Publikováno v:
Nature Neuroscience. 12:1266-1274
Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic generalized epilepsies. JME is associated with subtle alterations of cortical and subcortical architecture, but the underlying p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d24971f679f4b532b008a870131d70a
https://doi.org/10.1038/nn.2390
https://doi.org/10.1038/nn.2390
Publikováno v:
Pharmacology Biochemistry and Behavior. 88:446-455
The present study aimed to test the hypothesis that mice lacking the MCHR1 receptor (Melanin-Concentrating Hormone Receptor-1) present an elevated vulnerability towards the neurobehavioural effects of d -amphetamine, presumably due to previously esta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::223b788326ffd63639d54022d7b68074
https://doi.org/10.1016/j.pbb.2007.10.001
https://doi.org/10.1016/j.pbb.2007.10.001