Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Nathalie Roeckel-Trevisiol"'
1
Akademický článek
Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.
Autor: Sarah Jamali, Annick Salzmann, Nader Perroud, Magali Ponsole-Lenfant, Jennifer Cillario, Patrice Roll, Nathalie Roeckel-Trevisiol, Ariel Crespel, Jorg Balzar, Kurt Schlachter, Ursula Gruber-Sedlmayr, Ekaterina Pataraia, Christoph Baumgartner, Alexander Zimprich, Fritz Zimprich, Alain Malafosse, Pierre Szepetowski
Publikováno v: PLoS ONE, Vol 5, Iss 9, Pp 3307-3314 (2010)
BACKGROUND: Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial epilepsies and are frequently preceded by febrile seizures (FS) in infancy and early childhood. Genetic associations of several complement genes incl
Externí odkaz: https://doaj.org/article/1e26a09fcf834f698d4c4f6495722d41
Zobrazit plný text záznamu
2
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome
Autor: Christel Dagher, Audrey Criqui, Nathalie Roeckel-Trevisiol, Christel Castro, Daniel Mahfoud, Hala Mégarbané, Sylvain Baulande, André Mégarbané, Sayeeda Hana, Stephany El-Hayek, Mahmoud Taleb Al-Ali, Jean-Pierre Desvignes, Valérie Delague
Publikováno v: Molecular Syndromology
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd26fd4373b9c4259fcbc827655ef5b
https://hal-amu.archives-ouvertes.fr/hal-03662760
Zobrazit plný text záznamu
3
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
Autor: Chitra Prasad, Oleksandr Gakh, Jean-Pierre Desvignes, Mirna Assoum, Nicole M. Roslin, Christian R. Marshall, Nicolas Lévy, Susan Blaser, Alexis Brice, André Mégarbané, Guy A. Rouleau, Alexandra Durr, Valérie Delague, Grazia Isaya, Julian Raiman, Andrew D. Paterson, Rebekah Jobling, Stephen W. Scherer, Grace Yoon, Tara Paton, Nathalie Roeckel-Trevisiol, Emmanuel Roze, Cyril Mignot
Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2015, 138 (6), pp.1505-1517. ⟨10.1093/brain/awv057⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2015, 138 (6), pp.1505-1517. ⟨10.1093/brain/awv057⟩
Paediatrics Publications
International audience; Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients from four families affect
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6133d4f56c814872f31298f5fa27c53d
https://hal.science/hal-01680921
Zobrazit plný text záznamu
4
Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex
Autor: H. Dufour, Pierre Szepetowski, Maxime Guye, Marc Fontaine, Sandrine Pereira, Sarah Jamali, Annick Massacrier, Andrée Robaglia-Schlupp, Jean Régis, Patrick Chauvel, Pierre Cau, José Boucraut, Jean-Claude Peragut, Nathalie Roeckel-Trevisiol, Patrice Roll, Rivka Ravid, Barbara Royer, Fabrice Bartolomei
Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2006, 129, pp.625-641. ⟨10.1093/brain/awl001⟩
Brain-A Journal of Neurology, 2006, 129, pp.625-641. ⟨10.1093/brain/awl001⟩
Human mesial temporal lobe epilepsies (MTLE) are the most frequent form of partial epilepsies and display frequent pharmacoresistance. The molecular alterations underlying human MTLE remain poorly understood. A two-step transcriptional analysis consi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2222aa260b7f9619737198a84f3f5ef4
https://doi.org/10.1093/brain/awl001
Zobrazit plný text záznamu
5
Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures
Autor: Annick Salzmann, Nathalie Roeckel-Trevisiol, Jennifer Cillario, Ekaterina Pataraia, Christoph Baumgartner, Ariel Crespel, Alain Malafosse, Magali Ponsole-Lenfant, Jorg Balzar, Nader Perroud, Patrice Roll, Ursula Gruber-Sedlmayr, Pierre Szepetowski, Alexander Zimprich, Kurt Schlachter, Fritz Zimprich, Sarah Jamali
Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2010, 5 (9), pp.e12740. ⟨10.1371/journal.pone.0012740⟩
PLOS ONE, Vol. 5, No 9 (2010)
PLoS ONE, Vol 5, Iss 9, Pp 3307-3314 (2010)
BACKGROUND: Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial epilepsies and are frequently preceded by febrile seizures (FS) in infancy and early childhood. Genetic associations of several complement genes incl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::354f54108756ecb1ff4c5c74fcc55096
https://pubmed.ncbi.nlm.nih.gov/20862287
Zobrazit plný text záznamu
6
Nuclear localization of a novel human syntaxin 1B isoform
Autor: Christian Lévêque, Michael Seagar, Annick Massacrier, Marie-Christine Etienne-Grimaldi, Pierre Pontarotti, Barbara Royer, Sandrine Pereira, Nathalie Roeckel-Trevisiol, Pierre Cau, Yannick Poitelon, Pierre Szepetowski, Patrice Roll, Andrée Robaglia-Schlupp, Sarah Jamali, Nicolas Lévy, Alain Vérine
Publikováno v: Gene
Gene, Elsevier, 2008, 423 (2), pp.160-71. ⟨10.1016/j.gene.2008.07.010⟩
Gene, 2008, 423 (2), pp.160-71. ⟨10.1016/j.gene.2008.07.010⟩
International audience; The syntaxins are proteins associated with various intracellular membrane compartments. They are major participants in a large variety of physiological processes where membrane fusion occurs, including exocytosis. We have iden
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::428af17c90b23dc82fb4edf3f7911a73
https://hal.archives-ouvertes.fr/hal-00831154
Zobrazit plný text záznamu
7
SRPX2 mutations in disorders of language cortex and cognition
Autor: Marc Delepine, Samuel F. Berkovic, Caroline Seegmuller, Pierre Cau, Nicolas Lévy, Danièle Depétris, Anne de Saint Martin, Marie-Genevieve Mattei, Nadine Bruneau, Ingrid E. Scheffer, Christian Marescaux, Bernd A. Neubauer, Andrée Robaglia-Schlupp, Annick Massacrier, Edouard Hirsch, Christophe Caloustian, Mark Lathrop, Rivka Ravid, Patrice Roll, Pierre Szepetowski, Elisabeth Flori, Marie-Noëlle Metz-Lutz, Maria-Paola Valenti, Sandrine Pereira, Gabrielle Rudolf, Christophe Beclin, Sarah Jamali, Arnaud Lemainque, Nathalie Roeckel-Trevisiol, Barbara Royer
Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2006, 15(7), pp.1195-207
Human Molecular Genetics, 2006, 15(7), pp.1195-207
The rolandic and sylvian fissures divide the human cerebral hemispheres and the adjacent areas participate in speech processing. The relationship of rolandic (sylvian) seizure disorders with speech and cognitive impairments is well known, albeit poor
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15f85126b537563dd3f0051e8ba377d8
https://hal.archives-ouvertes.fr/hal-00089725
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje