P09.084C - Strong interest of exome sequencing in progressive neurological diseases

Autor: Thomas, Q. H. C., Mau Them, F. T., Bruel, A., Sorlin, A., Fromont, A., Bejot, Y., Giroud, M., Daubail, B., Jacquin Piques, Agnès, Hervieu Begue, M., Moreau, Thibault, Osseby, G., Soichot, P., Nambot, S., Callier, P., Denomme Pichon, A., Faivre, L., Vitobello, A., Philippe, C., Thauvin Robinet, C., Moutton, S.

Publikováno v: 52. conference of the European-Society-of-Human-Genetics (ESHG)
52. conference of the European-Society-of-Human-Genetics (ESHG), Jun 2019, Gothenburg, Sweden. Nature Publishing Group, European Journal of Human Genetics, 27 (Supplement 2), 1 p., 2019, Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters

International audience; Introduction: Neurogenetics represents a vast, complex, ever changing discipline whose diagnosis currently remains challenging, since clinical and/or imaging features frequently appear very unspecific, especially early in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1d1e7f4a7069f69ca51bde67513baa2a
https://hal.inrae.fr/hal-02736127

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Autor: Salpietro, Vincenzo, Malintan, Nancy T, Llano-Rivas, Isabel, Spaeth, Christine G, Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C, Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D, De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E, Macaya, Alfons, Kullmann, Dimitri M, Rothman, James E, Krishnakumar, Shyam S, Houlden, Henry, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D, Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G, Houlden, Henry.

Publikováno v: American Journal of Human Genetics

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::16e847325e2274e0b21469ce2adde331
http://hdl.handle.net/11368/2945858