Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jean-Francois Vanbellinghen"'
Autor:
Robert J. Harvey, Rita Shiang, C. L. Hammond, Colin Ferrie, Michael Freilinger, Janina Hantke, Eva Andermann, Mark I. Rees, Monique M. Ryan, Rhys H. Thomas, Seo-Kyung Chung, Jonathan G. L. Mullins, Candan Gürses, Angela Robinson, Frederick Andermann, John Christodoulou, Kirsten Harvey, Joseph W. Lynch, Jean-Francois Vanbellinghen, Michael C. Kruer, Amira Masri, Daniel Gilbert
Publikováno v:
The Journal of Neuroscience, 30(28), 9612-9620. Oxford University Press
Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli. This disorder is primarily caused by inherited mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c652306b17f5550da536cb1f53c27719
https://doi.org/10.1523/JNEUROSCI.1763-10.2010
https://doi.org/10.1523/JNEUROSCI.1763-10.2010
Autor:
Stephanie Matta, Jubran E. Rahme, Hanna Mandel, Emma Hobson, Zaid Afawi, Gail E. Graham, Amanda Krause, Anna Bode, Grace Vassallo, Sian-Elin Wood, Amira Masri, Samuel F. Berkovic, Sharon Aharoni, Orwain W. Howell, Cheney Drew, Vivek Jain, Alfred Peter Born, William O. Pickrell, Michael Freilinger, Jonathon G.L. Mullins, Elie G. Karam, Sue Chatfield, Jean-Francois Vanbellinghen, Gerald Bannasch, Marius Bartsch, Elizabeth Jones, Fusun Alehan, Thomas D. Cushion, Mark I. Rees, Joseph W. Lynch, Catherine Vincent-Delorme, Angelo Keramidas, Rhys H. Thomas, Seo-Kyung Chung, Bülent Kara
Hyperekplexia is a syndrome of readily provoked startle responses, alongside episodic and generalized hypertonia, that presents within the first month of life. Inhibitory glycine receptors are pentameric ligand-gated ion channels with a definitive an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9d2d6fe988488fecbf57900d9ab98aa
https://europepmc.org/articles/PMC3837119/
https://europepmc.org/articles/PMC3837119/
Autor:
Cheney Drew, Jean-Francois Vanbellinghen, C. L. Hammond, Thomas D. Cushion, Jonathan G. L. Mullins, Rhys H. Thomas, Mark I. Rees, Seo-Kyung Chung, Sian E. Wood
Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three affect glycinergic neurotransmission. Two genes encode for subunits of the postsynaptic inhibitory glycine receptor, G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a99955c6b3242fede636819a6fb8746c
https://cronfa.swan.ac.uk/Record/cronfa16195
https://cronfa.swan.ac.uk/Record/cronfa16195
Autor:
Adnan Y. Manzur, Kate Sinclair, Mireria Del Toro, Serge Rivera, Jean-Francois Vanbellinghen, Eloisa Carta, Jennifer Gill, Victoria M. James, Catriona A. Stuart, Grahame Wise, Rita Shiang, Stéphane Supplisson, Duncan Cameron, Marina A. J. Tijssen, Kirsten Harvey, Cheney Drew, Frances M. Cowan, Sameer M. Zuberi, Rhys H. Thomas, Mark I. Rees, Seo-Kyung Chung, Brian Pearce, Angela Robinson, Robert J. Harvey, Amira Masri, Nathalie Remy, Sophie Cagdas, Gail E. Graham, Emmanuel Scalais, Maya Topf
Publikováno v:
The Journal of Biological Chemistry, 287(34), 28975-28985. AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
Hereditary hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to hypertonia and apnea episodes. Missense, nonsense, frameshift, splice site mutations, and large deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d0e4a3ba1974226fee491957e9ea7d1
https://research.rug.nl/en/publications/d4e64b4e-8d8c-451d-9f2a-858103c78a15
https://research.rug.nl/en/publications/d4e64b4e-8d8c-451d-9f2a-858103c78a15
Autor:
M Nicloux, Claude Lardeux, Jean-François Magny, Monika Eisermann, Alexandre Lapillonne, Nadia Bahi-Buisson, Anna Kaminska, Jean-Francois Vanbellinghen
Publikováno v:
The Journal of Pediatrics. 164:664-664.e1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25a97afe68952e5a01349cdba1b457f8
https://doi.org/10.1016/j.jpeds.2013.10.073
https://doi.org/10.1016/j.jpeds.2013.10.073
Autor:
Jennifer L. Gill, Kate L. Tsai, Christa Krey, Rooksana E. Noorai, Jean-François Vanbellinghen, Laurent S. Garosi, G. Diane Shelton, Leigh Anne Clark, Robert J. Harvey
Publikováno v:
Neurobiology of Disease, Vol 45, Iss 1, Pp 130-136 (2012)
Episodic falling syndrome (EFS) is a canine paroxysmal hypertonicity disorder found in Cavalier King Charles spaniels. Episodes are triggered by exercise, stress or excitement and characterized by progressive hypertonicity throughout the thoracic and
Externí odkaz:
https://doaj.org/article/0462bd92406f44189b1a63e42b206f75
Autor:
Jennifer L. Gill, Deborah Capper, Jean-François Vanbellinghen, Seo-Kyung Chung, Robert J. Higgins, Mark I. Rees, G. Diane Shelton, Robert J. Harvey
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 1, Pp 184-189 (2011)
Defects in glycinergic synaptic transmission in humans, cattle, and rodents result in an exaggerated startle reflex and hypertonia in response to either acoustic or tactile stimuli. Molecular genetic studies have determined that mutations in the gene
Externí odkaz:
https://doaj.org/article/c16991afaaf14653899414c8d0f2eef6
Autor:
Emilie Castermans, Muriel Hannon, Jacques Dutrieux, Stéphanie Humblet-Baron, Laurence Seidel, Rémi Cheynier, Evelyne Willems, André Gothot, Jean-François Vanbellinghen, Vincent Geenen, Brenda M. Sandmaier, Rainer Storb, Yves Beguin, Frédéric Baron
Publikováno v:
Haematologica, Vol 96, Iss 2 (2011)
Background Long-term immune recovery in older patients given hematopoietic cell transplantation after non-myeloablative conditioning remains poorly understood. This prompted us to investigate long-term lymphocyte reconstitution and thymic function in
Externí odkaz:
https://doaj.org/article/7f62437f09c74fc5ab29af62d287f66e