AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- DOI
- 10.1038/s41467-019-10910-w
- Published
- 2019-07-12
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- Nature Communications
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- Springer Science and Business Media LLC
- Open access
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@article{allodium:10.1038/s41467-019-10910-w,
title = {AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders},
author = {Vincenzo Salpietro and Christine L. Dixon and Hui Guo and Oscar D. Bello and Jana Vandrovcova and Stephanie Efthymiou and Reza Maroofian and Gali Heimer and Lydie Burglen and Stephanie Valence and Erin Torti and Moritz Hacke and Julia Rankin and Huma Tariq and Estelle Colin and Vincent Procaccio and Pasquale Striano and Kshitij Mankad and Andreas Lieb and Sharon Chen and Laura Pisani and Conceicao Bettencourt and Roope Männikkö and Andreea Manole and Alfredo Brusco and Enrico Grosso and Giovanni Battista Ferrero and Judith Armstrong-Moron and Sophie Gueden and Omer Bar-Yosef and Michal Tzadok and Kristin G. Monaghan and Teresa Santiago-Sim and Richard E. Person and Megan T. Cho and Rebecca Willaert and Yongjin Yoo and Jong-Hee Chae and Yingting Quan and Huidan Wu and Tianyun Wang and Raphael A. Bernier and Kun Xia and Alyssa Blesson and Mahim Jain and Mohammad M. Motazacker and Bregje Jaeger and Amy L. Schneider and Katja Boysen and Alison M. Muir and Candace T. Myers and Ralitza H. Gavrilova and Lauren Gunderson and Laura Schultz-Rogers and Eric W. Klee and David Dyment and Matthew Osmond and Mara Parellada and Cloe Llorente and Javier Gonzalez-Peñas and Angel Carracedo and Arie Van Haeringen and Claudia Ruivenkamp and Caroline Nava and Delphine Heron and Rosaria Nardello and Michele Iacomino and Carlo Minetti and Aldo Skabar and Antonella Fabretto and Unknown and Michael G. Hanna and Enrico Bugiardini and Isabel Hostettler and Benjamin O’Callaghan and Alaa Khan and Andrea Cortese and Emer O’Connor and Wai Y. Yau and Thomas Bourinaris and Rauan Kaiyrzhanov and Viorica Chelban and Monika Madej and Maria C. Diana and Maria S. Vari and Marina Pedemonte and Claudio Bruno and Ganna Balagura and Marcello Scala and Chiara Fiorillo and Lino Nobili and Nancy T. Malintan and Maria N. Zanetti and Shyam S. Krishnakumar and Gabriele Lignani and James E. C. Jepson and Paolo Broda and Simona Baldassari and Pia Rossi and Floriana Fruscione and Francesca Madia and Monica Traverso and Patrizia De-Marco and Belen Pérez-Dueñas and Francina Munell and Yamna Kriouile and Mohamed El-Khorassani and Blagovesta Karashova and Daniela Avdjieva and Hadil Kathom and Radka Tincheva and Lionel Van-Maldergem and Wolfgang Nachbauer and Sylvia Boesch and Antonella Gagliano and Elisabetta Amadori and Jatinder S. Goraya and Tipu Sultan and Salman Kirmani and Shahnaz Ibrahim and Farida Jan and Jun Mine and Selina Banu and Pierangelo Veggiotti and Gian V. Zuccotti and Michel D. Ferrari and Arn M. J. Van Den Maagdenberg and Alberto Verrotti and Gian L. Marseglia and Salvatore Savasta and Miguel A. Soler and Carmela Scuderi and Eugenia Borgione and Roberto Chimenz and Eloisa Gitto and Valeria Dipasquale and Alessia Sallemi and Monica Fusco and Caterina Cuppari and Maria C. Cutrupi and Martino Ruggieri and Armando Cama and Valeria Capra and Niccolò E. Mencacci and Richard Boles and Neerja Gupta and Madhulika Kabra and Savvas Papacostas and Eleni Zamba-Papanicolaou and Efthymios Dardiotis and Shazia Maqbool and Nuzhat Rana and Osama Atawneh and Shen Y. Lim and Farooq Shaikh and George Koutsis and Marianthi Breza and Domenico A. Coviello and Yves A. Dauvilliers and Issam AlKhawaja and Mariam AlKhawaja and Fuad Al-Mutairi and Tanya Stojkovic and Veronica Ferrucci and Massimo Zollo and Fowzan S. Alkuraya and Maria Kinali and Hamed Sherifa and Hanene Benrhouma and Ilhem B. Y. Turki and Meriem Tazir and Makram Obeid and Sophia Bakhtadze and Nebal W. Saadi and Maha S. Zaki and Chahnez C. Triki and Fabio Benfenati and Stefano Gustincich and Majdi Kara and Vincenzo Belcastro and Nicola Specchio and Giuseppe Capovilla and Ehsan G. Karimiani and Ahmed M. Salih and Njideka U. Okubadejo and Oluwadamilola O. Ojo and Olajumoke O. Oshinaike and Olapeju Oguntunde and Kolawole Wahab and Abiodun H. Bello and Sanni Abubakar and Yahaya Obiabo and Ernest Nwazor and Oluchi Ekenze and Uduak Williams and Alagoma Iyagba and Lolade Taiwo and Morenikeji Komolafe and Konstantin Senkevich and Chingiz Shashkin and Nazira Zharkynbekova and Kairgali Koneyev and Ganieva Manizha and Maksud Isrofilov and Ulviyya Guliyeva and Kamran Salayev and Samson Khachatryan and Salvatore Rossi and Gabriella Silvestri and Nourelhoda Haridy and Luca A. Ramenghi and Georgia Xiromerisiou and Emanuele David and Mhammed Aguennouz and Liana Fidani and Cleanthe Spanaki and Arianna Tucci and Miquel Raspall-Chaure and Michael Chez and Anne Tsai and Emily Fassi and Marwan Shinawi and John N. Constantino and Rita De Zorzi and Sara Fortuna and Fernando Kok and Boris Keren and Dominique Bonneau and Murim Choi and Bruria Benzeev and Federico Zara and Heather C. Mefford and Ingrid E. Scheffer and Jill Clayton-Smith and Alfons Macaya and James E. Rothman and Evan E. Eichler and Dimitri M. Kullmann and Henry Houlden},
year = {2019},
journal = {Nature Communications},
doi = {10.1038/s41467-019-10910-w},
url = {https://doi.org/10.1038/s41467-019-10910-w}
}RIS
TY - JOUR TI - AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders AU - Vincenzo Salpietro AU - Christine L. Dixon AU - Hui Guo AU - Oscar D. Bello AU - Jana Vandrovcova AU - Stephanie Efthymiou AU - Reza Maroofian AU - Gali Heimer AU - Lydie Burglen AU - Stephanie Valence AU - Erin Torti AU - Moritz Hacke AU - Julia Rankin AU - Huma Tariq AU - Estelle Colin AU - Vincent Procaccio AU - Pasquale Striano AU - Kshitij Mankad AU - Andreas Lieb AU - Sharon Chen AU - Laura Pisani AU - Conceicao Bettencourt AU - Roope Männikkö AU - Andreea Manole AU - Alfredo Brusco AU - Enrico Grosso AU - Giovanni Battista Ferrero AU - Judith Armstrong-Moron AU - Sophie Gueden AU - Omer Bar-Yosef AU - Michal Tzadok AU - Kristin G. Monaghan AU - Teresa Santiago-Sim AU - Richard E. Person AU - Megan T. Cho AU - Rebecca Willaert AU - Yongjin Yoo AU - Jong-Hee Chae AU - Yingting Quan AU - Huidan Wu AU - Tianyun Wang AU - Raphael A. Bernier AU - Kun Xia AU - Alyssa Blesson AU - Mahim Jain AU - Mohammad M. Motazacker AU - Bregje Jaeger AU - Amy L. Schneider AU - Katja Boysen AU - Alison M. Muir AU - Candace T. Myers AU - Ralitza H. Gavrilova AU - Lauren Gunderson AU - Laura Schultz-Rogers AU - Eric W. Klee AU - David Dyment AU - Matthew Osmond AU - Mara Parellada AU - Cloe Llorente AU - Javier Gonzalez-Peñas AU - Angel Carracedo AU - Arie Van Haeringen AU - Claudia Ruivenkamp AU - Caroline Nava AU - Delphine Heron AU - Rosaria Nardello AU - Michele Iacomino AU - Carlo Minetti AU - Aldo Skabar AU - Antonella Fabretto AU - Unknown AU - Michael G. Hanna AU - Enrico Bugiardini AU - Isabel Hostettler AU - Benjamin O’Callaghan AU - Alaa Khan AU - Andrea Cortese AU - Emer O’Connor AU - Wai Y. Yau AU - Thomas Bourinaris AU - Rauan Kaiyrzhanov AU - Viorica Chelban AU - Monika Madej AU - Maria C. Diana AU - Maria S. Vari AU - Marina Pedemonte AU - Claudio Bruno AU - Ganna Balagura AU - Marcello Scala AU - Chiara Fiorillo AU - Lino Nobili AU - Nancy T. Malintan AU - Maria N. Zanetti AU - Shyam S. Krishnakumar AU - Gabriele Lignani AU - James E. C. Jepson AU - Paolo Broda AU - Simona Baldassari AU - Pia Rossi AU - Floriana Fruscione AU - Francesca Madia AU - Monica Traverso AU - Patrizia De-Marco AU - Belen Pérez-Dueñas AU - Francina Munell AU - Yamna Kriouile AU - Mohamed El-Khorassani AU - Blagovesta Karashova AU - Daniela Avdjieva AU - Hadil Kathom AU - Radka Tincheva AU - Lionel Van-Maldergem AU - Wolfgang Nachbauer AU - Sylvia Boesch AU - Antonella Gagliano AU - Elisabetta Amadori AU - Jatinder S. Goraya AU - Tipu Sultan AU - Salman Kirmani AU - Shahnaz Ibrahim AU - Farida Jan AU - Jun Mine AU - Selina Banu AU - Pierangelo Veggiotti AU - Gian V. Zuccotti AU - Michel D. Ferrari AU - Arn M. J. Van Den Maagdenberg AU - Alberto Verrotti AU - Gian L. Marseglia AU - Salvatore Savasta AU - Miguel A. Soler AU - Carmela Scuderi AU - Eugenia Borgione AU - Roberto Chimenz AU - Eloisa Gitto AU - Valeria Dipasquale AU - Alessia Sallemi AU - Monica Fusco AU - Caterina Cuppari AU - Maria C. Cutrupi AU - Martino Ruggieri AU - Armando Cama AU - Valeria Capra AU - Niccolò E. Mencacci AU - Richard Boles AU - Neerja Gupta AU - Madhulika Kabra AU - Savvas Papacostas AU - Eleni Zamba-Papanicolaou AU - Efthymios Dardiotis AU - Shazia Maqbool AU - Nuzhat Rana AU - Osama Atawneh AU - Shen Y. Lim AU - Farooq Shaikh AU - George Koutsis AU - Marianthi Breza AU - Domenico A. Coviello AU - Yves A. Dauvilliers AU - Issam AlKhawaja AU - Mariam AlKhawaja AU - Fuad Al-Mutairi AU - Tanya Stojkovic AU - Veronica Ferrucci AU - Massimo Zollo AU - Fowzan S. Alkuraya AU - Maria Kinali AU - Hamed Sherifa AU - Hanene Benrhouma AU - Ilhem B. Y. Turki AU - Meriem Tazir AU - Makram Obeid AU - Sophia Bakhtadze AU - Nebal W. Saadi AU - Maha S. Zaki AU - Chahnez C. Triki AU - Fabio Benfenati AU - Stefano Gustincich AU - Majdi Kara AU - Vincenzo Belcastro AU - Nicola Specchio AU - Giuseppe Capovilla AU - Ehsan G. Karimiani AU - Ahmed M. Salih AU - Njideka U. Okubadejo AU - Oluwadamilola O. Ojo AU - Olajumoke O. Oshinaike AU - Olapeju Oguntunde AU - Kolawole Wahab AU - Abiodun H. Bello AU - Sanni Abubakar AU - Yahaya Obiabo AU - Ernest Nwazor AU - Oluchi Ekenze AU - Uduak Williams AU - Alagoma Iyagba AU - Lolade Taiwo AU - Morenikeji Komolafe AU - Konstantin Senkevich AU - Chingiz Shashkin AU - Nazira Zharkynbekova AU - Kairgali Koneyev AU - Ganieva Manizha AU - Maksud Isrofilov AU - Ulviyya Guliyeva AU - Kamran Salayev AU - Samson Khachatryan AU - Salvatore Rossi AU - Gabriella Silvestri AU - Nourelhoda Haridy AU - Luca A. Ramenghi AU - Georgia Xiromerisiou AU - Emanuele David AU - Mhammed Aguennouz AU - Liana Fidani AU - Cleanthe Spanaki AU - Arianna Tucci AU - Miquel Raspall-Chaure AU - Michael Chez AU - Anne Tsai AU - Emily Fassi AU - Marwan Shinawi AU - John N. Constantino AU - Rita De Zorzi AU - Sara Fortuna AU - Fernando Kok AU - Boris Keren AU - Dominique Bonneau AU - Murim Choi AU - Bruria Benzeev AU - Federico Zara AU - Heather C. Mefford AU - Ingrid E. Scheffer AU - Jill Clayton-Smith AU - Alfons Macaya AU - James E. Rothman AU - Evan E. Eichler AU - Dimitri M. Kullmann AU - Henry Houlden PY - 2019 JO - Nature Communications DO - 10.1038/s41467-019-10910-w UR - https://doi.org/10.1038/s41467-019-10910-w ER -
APA
Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A., Chen, S., Pisani, L., Bettencourt, C., Männikkö, R., Manole, A., Brusco, A., Grosso, E., Ferrero, G. B., Armstrong-Moron, J., Gueden, S., Bar-Yosef, O., Tzadok, M., Monaghan, K. G., Santiago-Sim, T., Person, R. E., Cho, M. T., Willaert, R., Yoo, Y., Chae, J., Quan, Y., Wu, H., Wang, T., Bernier, R. A., Xia, K., Blesson, A., Jain, M., Motazacker, M. M., Jaeger, B., Schneider, A. L., Boysen, K., Muir, A. M., Myers, C. T., Gavrilova, R. H., Gunderson, L., Schultz-Rogers, L., Klee, E. W., Dyment, D., Osmond, M., Parellada, M., Llorente, C., Gonzalez-Peñas, J., Carracedo, A., Haeringen, A. V., Ruivenkamp, C., Nava, C., Heron, D., Nardello, R., Iacomino, M., Minetti, C., Skabar, A., Fabretto, A., Unknown, Hanna, M. G., Bugiardini, E., Hostettler, I., O’Callaghan, B., Khan, A., Cortese, A., O’Connor, E., Yau, W. Y., Bourinaris, T., Kaiyrzhanov, R., Chelban, V., Madej, M., Diana, M. C., Vari, M. S., Pedemonte, M., Bruno, C., Balagura, G., Scala, M., Fiorillo, C., Nobili, L., Malintan, N. T., Zanetti, M. N., Krishnakumar, S. S., Lignani, G., Jepson, J. E. C., Broda, P., Baldassari, S., Rossi, P., Fruscione, F., Madia, F., Traverso, M., De-Marco, P., Pérez-Dueñas, B., Munell, F., Kriouile, Y., El-Khorassani, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van-Maldergem, L., Nachbauer, W., Boesch, S., Gagliano, A., Amadori, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Zuccotti, G. V., Ferrari, M. D., Maagdenberg, A. M. J. V. D., Verrotti, A., Marseglia, G. L., Savasta, S., Soler, M. A., Scuderi, C., Borgione, E., Chimenz, R., Gitto, E., Dipasquale, V., Sallemi, A., Fusco, M., Cuppari, C., Cutrupi, M. C., Ruggieri, M., Cama, A., Capra, V., Mencacci, N. E., Boles, R., Gupta, N., Kabra, M., Papacostas, S., Zamba-Papanicolaou, E., Dardiotis, E., Maqbool, S., Rana, N., Atawneh, O., Lim, S. Y., Shaikh, F., Koutsis, G., Breza, M., Coviello, D. A., Dauvilliers, Y. A., AlKhawaja, I., AlKhawaja, M., Al-Mutairi, F., Stojkovic, T., Ferrucci, V., Zollo, M., Alkuraya, F. S., Kinali, M., Sherifa, H., Benrhouma, H., Turki, I. B. Y., Tazir, M., Obeid, M., Bakhtadze, S., Saadi, N. W., Zaki, M. S., Triki, C. C., Benfenati, F., Gustincich, S., Kara, M., Belcastro, V., Specchio, N., Capovilla, G., Karimiani, E. G., Salih, A. M., Okubadejo, N. U., Ojo, O. O., Oshinaike, O. O., Oguntunde, O., Wahab, K., Bello, A. H., Abubakar, S., Obiabo, Y., Nwazor, E., Ekenze, O., Williams, U., Iyagba, A., Taiwo, L., Komolafe, M., Senkevich, K., Shashkin, C., Zharkynbekova, N., Koneyev, K., Manizha, G., Isrofilov, M., Guliyeva, U., Salayev, K., Khachatryan, S., Rossi, S., Silvestri, G., Haridy, N., Ramenghi, L. A., Xiromerisiou, G., David, E., Aguennouz, M., Fidani, L., Spanaki, C., Tucci, A., Raspall-Chaure, M., Chez, M., Tsai, A., Fassi, E., Shinawi, M., Constantino, J. N., Zorzi, R. D., Fortuna, S., Kok, F., Keren, B., Bonneau, D., Choi, M., Benzeev, B., Zara, F., Mefford, H. C., Scheffer, I. E., Clayton-Smith, J., Macaya, A., Rothman, J. E., Eichler, E. E., Kullmann, D. M., & Houlden, H. (2019). AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature Communications. https://doi.org/10.1038/s41467-019-10910-w
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- crossref · retrieved 2026-09-26T04:04:33.254Z