Arama Sonuçları - Viorica Chelban

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    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Yazar: Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O’Callaghan, John McKinley, Reza Maroofian, Stéphanie Efthymiou, Alkyoni Athanasiou‐Fragkouli, Raeburn Forbes, Marc P. M. Soutar, John H. Livingston, Bernardett Kalmar, Orlando Swayne, Gary Hotton, Alan Pittman, João Ricardo Mendes de Oliveira, Maria De Grandis, Angela Richard-Loendt, Francesca Launchbury, Juri Althonayan, Gavin McDonnell, Aisling Carr, Suliman Khan, Christian Beetz, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Amber Begtrup, Erin Torti, Linda Greensmith, Paola Giunti, Patrick J. Morrison, Sebastian Brandner, Michel Aurrand‐Lions, Henry Houlden, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed

    Baskı/Yayın Bilgisi 2020
    Tam Metin Erişim Tam Metin Erişim
    Artigo
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    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Yazar: Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ángel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia

    Baskı/Yayın Bilgisi 2019
    Tam Metin Erişim Tam Metin Erişim
    Artigo
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    Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset Yazar: Kimberley J. Billingsley, Inês A. Barbosa, Sara Bandrés‐Ciga, John P. Quinn, Vivien J. Bubb, Charu Deshpande, Juan A. Botía, Regina H. Reynolds, David Zhang, Michael A. Simpson, Cornelis Blauwendraat, Ziv Gan‐Or, J. Raphael Gibbs, Mike A. Nalls, Andrew Singleton, Alastair Noyce, Arianna Tucci, Ben Middlehurst, Demis A. Kia, Mingpu Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, José Brás, Kin Y. Mok, Kerri J. Kinghorn, Nicholas Wood, Patrick A. Lewis, Rita Guerreiro, Ruth C. Lovering, Lea R’Bibo, Mie Rizig, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, N. Williams, Alexis Brice, Fabrice Danjou, Suzanne Lesage, María Martínez, Ayush Giri, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark Cookson, Faraz Faghri, Dena Hernández, J. Shulman, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Sonja W. Scholz, Xylena Reed, Hampton L. Leonard, Guy A. Rouleau, Lynne Krohan, JJ van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, M. Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, J. Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Magally Bernal, María Teresa Boungiorno, Dolores Buiza‐Rueda, Ana Cámara, María Cárcel, F. Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Mónica Díez-Fairén, Oriol Dols‐Icardo, J. Duarte, R. l. Duran, Francisco Escamilla‐Sevilla, Mario Ezquerra, Manel Fernández, Rubén Fernández‐Santiago, C. Garcı́a, Pedro Ruiz, Pilar Gómez‐Garre, Mégane Heredia, Isabel González Aramburu, Ana Gorostidi Pagola

    Baskı/Yayın Bilgisi 2019
    Tam Metin Erişim Tam Metin Erişim
    Artigo
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    Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies Yazar: Mike A. Nalls, Cornelis Blauwendraat, Costanza L. Vallerga, Karl Heilbron, Sara Bandrés‐Ciga, Diana Chang, Manuela Tan, Demis A. Kia, Alastair Noyce, Angli Xue, José Brás, Emily Young, Rainer von Coelln, Javier Simón‐Sánchez, Claudia Schulte, Manu Sharma, Lynne Krohn, Lasse Pihlstrøm, Ari Siitonen, Hirotaka Iwaki, Hampton L. Leonard, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Sonja W. Scholz, Juan A. Botía, María Martínez, Jean‐Christophe Corvol, Suzanne Lesage, Joseph Jankovic, Lisa M. Shulman, Margaret Sutherland, Pentti J. Tienari, Kari Majamaa, Mathias Toft, Ole A. Andreassen, Tushar Bangale, Alexis Brice, Jian Yang, Ziv Gan‐Or, Thomas Gasser, Peter Heutink, Joshua Shulman, Nicholas Wood, David A. Hinds, John Hardy, Huw R. Morris, Jacob Gratten, Peter M. Visscher, Robert Graham, Andrew Singleton, Astrid Adarmes‐Gómez, Miquel Aguilar, Akbota Aitkulova, Vadim Akhmetzhanov, Roy N. Alcalay, Ignacio Álvarez, Victoria Álvarez, Sara Bandrés‐Ciga, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Kimberley J. Billingsley, Cornelis Blauwendraat, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, José Brás, Alexis Brice, Kathrin Brockmann, Vivien J. Bubb, Dolores Buiza‐Rueda, Anna Maria Novella Càmara, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Viorica Chelban, Jordi Clarimón, Carl E Clarke, Yaroslau Compta, Mark Cookson, Jean‐Christophe Corvol, David W. Craig, Fabrice Danjou, Mónica Díez-Fairén, Oriol Dols‐Icardo, J. Duarte, Raquel Durán, Francisco Escamilla‐Sevilla, Valentina Escott‐Price, Mario Ezquerra, Faraz Faghri, Cici Feliz, Manel Fernández, Rubén Fernández‐Santiago, Steven Finkbeiner, Thomas Foltynie, Ziv Gan‐Or, Ciara García

    Baskı/Yayın Bilgisi 2019
    Tam Metin Erişim
    Revisão