المؤلفون: Koo, Seong Joo¹, Kochlamazashvili, Gaga¹, Rost, Benjamin², Puchkov, Dmytro¹, Gimber, Niclas¹, Lehmann, Martin^1,3, Tadeus, Georgi¹, Schmoranzer, Jan^1,3, Rosenmund, Christian², Haucke, Volker^1,2,3 haucke@fmp-berlin.de, Maritzen, Tanja¹ maritzen@fmp-berlin.de

المصدر: Neuron. Oct2015, Vol. 88 Issue 2, p330-344. 15p.

مصطلحات موضوعية: *SYNAPTOBREVIN, *NEURAL transmission, *PROTEIN receptors, *CELL death, *VESICLE associated membrane protein

المؤلفون: 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, 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., Sultan, Tipu, 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, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

المساهمون: V. Salpietro, N.T. Malintan, I. Llano-Riva, C.G. Spaeth, S. Efthymiou, P. Striano, J. Vandrovcova, M.C. Cutrupi, R. Chimenz, E. David, G. Di Rosa, A. Marce-Grau, M. Raspall-Chaure, E. Martin-Hernandez, F. Zara, C. Minetti, Y. Kriouile, M. El Khorassani, M. Aguennouz, B. Karashova, D. Avdjieva, H. Kathom, R. Tincheva, L. Van Maldergem, W. Nachbauer, S. Boesch, L. Arning, D. Timmann, B. Cormand, B. Pérez-Dueña, E. Pironti, J.S. Goraya, T. Sultan, S. Kirmani, S. Ibrahim, F. Jan, J. Mine, S. Banu, P. Veggiotti, M.D. Ferrari, A. Verrotti, G.L. Marseglia, S. Savasta, B. Garavaglia, C. Scuderi, E. Borgione, V. Dipasquale, S. Portaro, B.M. Sanchez, M. Pineda-Marfa, F. Munell, A. Macaya, R. Bole, G. Heimer, S. Papacosta, A. Manole, N. Malintan, M.N. Zanetti, M.G. Hanna, J.E. Rothman, D.M. Kullmann, H. Houlden, O.D. Bello, R. De Zorzi, S. Fortuna, A. Dauber, M. Alkhawaja, K. Mankad, A. Vitobello, Q. Thoma, F.T. Mau-Them, L. Faivre, F. Martinez-Azorin, C.E. Prada, S.S. Krishnakumar

مصطلحات موضوعية: autism, epilepsy, movement disorder, neurodevelopmental disorder, neuronal exocytosi, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetic, Genetics (clinical), Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30929742; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700012; volume:104; issue:4; firstpage:721; lastpage:730; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/640796Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/2434/640796Test

المؤلفون: Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Deciphering Developmental Disorders Study, SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Alfons Macaya, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: SNARE, VAMP2, autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, synaptobrevin, synaptopathy, vesicle fusion, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::18fd80c154bc024e984856eca1549a33Test
https://reader.elsevier.com/reader/sd/pii/S0002929719300618?token=2D60101246259E501F4CCA78BC429A4B90C6C156D7C0E0603075AF5B07B85A7F874FA3994369569FBC00B9C93D7B118D&originRegion=eu-west-1&originCreation=20210722083225Test

المؤلفون: Salpietro, Vincenzo, Malintan, Nancy T., Llano Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria Concetta, Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce Grau, Anna, Raspall Chaure, Miquel, Martin Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar Daniel, De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Tran Mau Them, Frederic, Faivre, Laurence, Martinez Azorin, Francisco, Prada, Carlos E., Macaya, Alfons

مصطلحات موضوعية: AUTISM, EPILEPSY, MOVEMENT DISORDERS, NEURODEVELOPMENTAL DISORDERS, NEURONAL EXOCYTOSIS, SNARE, SYNAPTOBREVIN, SYNAPTOPATHY, VAMP2, VESICLE FUSION, https://purl.org/becyt/ford/3.1Test, https://purl.org/becyt/ford/3Test

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S0002929719300618Test; http://hdl.handle.net/11336/160046Test; Salpietro, Vincenzo; Malintan, Nancy T.; Llano Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; et al.; Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment; Cell Press; American Journal Of Human Genetics; 104; 4; 3-2019; 721-730; CONICET Digital; CONICET

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/11336/160046Test

المؤلفون: Zhou, Peng¹, Bacaj, Taulant¹, Yang, Xiaofei¹, Pang, Zhiping?P.¹, Südhof, Thomas?C.¹ tcs1@stanford.edu

المصدر: Neuron. Oct2013, Vol. 80 Issue 2, p470-483. 14p.

مصطلحات موضوعية: *MEMBRANE proteins, *LIPIDS, *MEMBRANE fusion, *NEUROTRANSMITTERS, *SYNTAXINS, *SYNAPTOBREVIN, *ELECTROPHYSIOLOGY

المؤلفون: Husson, Steven J.^1,2, Costa, Wagner Steuer^1,2, Wabnig, Sebastian^1,2, Stirman, Jeffrey N.³, Watson, Joseph D.⁴, Spencer, W. Clay^4,5, Akerboom, Jasper⁶, Looger, Loren L.⁶, Treinin, Millet⁷, Miller, David M.^4,5, Lu, Hang³, Gottschalk, Alexander^1,2 a.gottschalk@em.uni-frankfurt.de

المصدر: Current Biology. May2012, Vol. 22 Issue 9, p743-752. 10p.

مصطلحات موضوعية: *NOCICEPTORS, *GENETICS, *CAENORHABDITIS elegans, *DENDRITES, *INTERNEURONS, *SYNAPTOBREVIN