نتائج البحث - "Ferrari, Michel D"

1

دورية أكاديمية

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

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: 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, Mercede, Munell, Francina, Macaya, Alfon, Boles, Richard, Heimer, Gali, Papacostas, Savva, 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.

مصطلحات موضوعية: autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical)

وصف الملف: STAMPA

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/11570/3138980Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737; https://www.cell.com/ajhg/fulltext/S0002-9297Test(19)30061-8

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/11570/3138980Test
https://www.cell.com/ajhg/fulltext/S0002-9297Test(19)30061-8

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2

دورية أكاديمية

Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas

المساهمون: Stichting voor de Technische Wetenschappen, Seventh Framework Programme, Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Human Genetics ; volume 135, issue 4, page 425-439 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-016-1638-xTest

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3

دورية أكاديمية

Meta-analysis of genome-wide association for migraine in six population-based European cohorts

المصدر: European Journal of Human Genetics ; volume 19, issue 8, page 901-907 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2011.48Test
http://www.nature.com/articles/ejhg201148.pdfTest

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4

دورية أكاديمية

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine

المؤلفون: Vanmolkot, Kaate R J, Stam, Anine H, Raman, Ashok, Koenderink, Jan B, de Vries, Boukje, van den Boogerd, Eelke H, van Vark, Judith, van den Heuvel, Jeroen J M W, Bajaj, Nin, Terwindt, Gisela M, Haan, Joost, Frants, Rune R, Ferrari, Michel D, van den Maagdenberg, Arn M J M

المصدر: European Journal of Human Genetics ; volume 15, issue 8, page 884-888 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201841Test
http://www.nature.com/articles/5201841.pdfTest
http://www.nature.com/articles/5201841Test

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5

دورية أكاديمية

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine

المؤلفون: Castro, Maria-José, Stam, Anine H., Lemos, Carolina, Barros, José, Gouveia, Raquel G., Martins, Isabel Pavão, Koenderink, Jan B., Vanmolkot, Kaate R. J., Mendes, Alexandre P., Frants, Rune R., Ferrari, Michel D., Sequeiros, Jorge, Pereira-Monteiro, José M., van den Maagdenberg, Arn M. J. M.

المصدر: Journal of Human Genetics ; volume 52, issue 12, page 990-998 ; ISSN 1434-5161 1435-232X

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s10038-007-0205-7Test
http://www.nature.com/articles/jhg2007131.pdfTest
http://www.nature.com/articles/jhg2007131Test

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6

دورية أكاديمية

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

المؤلفون: Vanmolkot, Kaate R J, Kors, Esther E, Turk, Ulku, Turkdogan, Dylsad, Keyser, Antoine, Broos, Ludo A M, Kia, Sima Kheradmand, van den Heuvel, Jeroen J M W, Black, David F, Haan, Joost, Frants, Rune R, Barone, Virginia, Ferrari, Michel D, Casari, Giorgio, Koenderink, Jan B, van den Maagdenberg, Arn M J M

المصدر: European Journal of Human Genetics ; volume 14, issue 5, page 555-560 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201607Test
http://www.nature.com/articles/5201607.pdfTest
http://www.nature.com/articles/5201607Test

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7

دورية أكاديمية

Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3

المؤلفون: Ophoff, Roel A., DeYoung, Joseph, Service, Susan K., Joosse, Marijke, Caffo, Nathan A., Sandkuijl, Lodewijk A., Terwindt, Gisela M., Haan, Joost, van den Maagdenberg, Arn M.J.M., Jen, Joanna, Baloh, Robert W., Barilla-LaBarca, Maria-Louise, Saccone, Nancy L., Atkinson, John P., Ferrari, Michel D., Freimer, Nelson B., Frants, Rune R.

المصدر: The American Journal of Human Genetics ; volume 69, issue 2, page 447-453 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/321975Test
https://api.elsevier.com/content/article/PII:S000292970761091X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292970761091X?httpAccept=text/plainTest

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8

Molecular genetic overlap between migraine and major depressive disorder

المؤلفون: Yang, Yuanhao, Zhao, Huiying, Boomsma, Dorret I, Smith, George Davey, Esko, Tonu, Hansen, Thomas Folkmann, Ikram, M. Arfan, Paraskevi, Christofidou, Strachan, David P., Wessman, Maija, Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Pers, Tune H., Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H. H., Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A., Buring, Julie E., Schürks, Markus, Ridker, Paul M., Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M., Hottenga, Jouke-Jan, Penninx, Brenda W. J. H., Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C., Madden, Pamela A. F., Martin, Nicholas G., Montgomery, Grant W, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E., Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H., Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G., Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G., Hofman, Albert, van Duijn, Cornelia M., Cherkas, Lynn, Pedersen, Linda M., Stubhaug, Audun, Nielsen, Christopher S., Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Christensen, Anne Francke, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J., Raitakari, Olli, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Ferrari, Michel D., Belin, Andrea C., Dichgans, Martin, Zwart, John-Anker, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J., Neale, Benjamin M., Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Palotie, Aarno, van den Maagdenberg, Arn M. J. M., Terwindt, Gisela M.

المساهمون: Psychiatry, APH - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Digital Health, Epidemiology, Biological Psychology, APH - Methodology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases

المصدر: European Journal of Human Genetics
Boomsma, D I, Ligthart, L, Hottenga, J J, Penninx, B W J H & The International Headache Genetics Consortium 2018, ' Molecular genetic overlap between migraine and major depressive disorder ', European Journal of Human Genetics, vol. 26, no. 8, pp. 1202-1216 . https://doi.org/10.1038/s41431-018-0150-2Test
The International Headache Genetics Consortium 2018, ' Molecular genetic overlap between migraine and major depressive disorder ', European Journal of Human Genetics, vol. 26, no. 8, pp. 1202-1216 . https://doi.org/10.1038/s41431-018-0150-2Test
the International Headache Genetics Consortium, Yang, Y, Zhao, H, Boomsma, D I, Ligthart, L, Belin, A C, Smith, G D, Esko, T, Freilinger, T M, Hansen, T F, Ikram, M A, Kallela, M, Kubisch, C, Paraskevi, C, Strachan, D P, Wessman, M, Gormley, P, Anttila, V, Winsvold, B S, Palta, P, Esko, T, Pers, T H, Farh, K H, Cuenca-Leon, E, Muona, M, Furlotte, N A, Kurth, T, Ingason, A, McMahon, G, Ligthart, L, Terwindt, G M, Kallela, M, Freilinger, T M, Ran, C, Gordon, S G, Stam, A H, Steinberg, S, Borck, G, Koiranen, M, Quaye, L, Adams, H H H, Lehtimäki, T, Sarin, A P, Wedenoja, J, Hinds, D A, Buring, J E, Schürks, M, Ridker, P M, Ring, S M, Stergiakouli, E & Smith, G D 2018, ' Molecular genetic overlap between migraine and major depressive disorder ', European Journal of Human Genetics, vol. 26, no. 8, pp. 1202-1216 . https://doi.org/10.1038/s41431-018-0150-2Test
European Journal of Human Genetics, 26(8), 1202-1216. Nature Publishing Group