Search Results - Emer O’Connor

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  1. 1
    Spinocerebellar ataxia: an update

    Spinocerebellar ataxia: an update by Roisin Sullivan, Wai Yan Yau, Emer O’Connor, Henry Houlden

    Published 2018
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  2. 2
    <i>RFC1</i>-related ataxia is a mimic of early multiple system atrophy

    <i>RFC1</i>-related ataxia is a mimic of early multiple system atrophy by Roisin Sullivan, Wai Yan Yau, Viorica Chelban, Salvatore Rossi, Natalia Dominik, Emer O’Connor, John Hardy, Nicholas Wood, Andrea Cortese, Henry Houlden

    Published 2021
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  3. 3
    Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache

    Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache by Aster V. E. Harder, Bendik S. Winsvold, Raymond Noordam, Lisanne S. Vijfhuizen, Sigrid Børte, Lisette J. A. Kogelman, Irene de Boer, Erling Tronvik, Frits R. Rosendaal, Ko Willems van Dijk, Emer O’Connor, Carmen Fourier, Laurent F. Thomas, Espen Saxhaug Kristoffersen, Rolf Fronczek, Patricia Pozo‐Rosich, Rigmor Jensen, Michel D. Ferrari, Thomas Hansen, John‐Anker Zwart, Gisela M. Terwindt, Arn M. J. M. van den Maagdenberg

    Published 2021
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  4. 4
    Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache

    Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache by Emer O’Connor, Carmen Fourier, Caroline Ran, Prasanth Sivakumar, Franziska Liesecke, Laura Southgate, Aster V. E. Harder, Lisanne S. Vijfhuizen, Janice Yip, Nicola Giffin, Nicholas Silver, Fayyaz Ahmed, Isabel C. Hostettler, Brendan Davies, M. Zameel Cader, Benjamin S. Simpson, Roisin Sullivan, Stéphanie Efthymiou, Joycee Adebimpe, Olivia Quinn, Ciarán Campbell, Gianpiero L. Cavalleri, Michail Vikelis, Tim Kelderman, Koen Paemeleire, Emer Kilbride, Lou Grangeon, Susie Lagrata, Daisuke Danno, Richard C. Trembath, Nicholas Wood, Ingrid Kockum, Bendik S. Winsvold, Anna Steinberg, Christina Sjöstrand, Elisabet Waldenlind, Jana Vandrovcová, Henry Houlden, Manjit Matharu, Andrea Carmine Belin

    Published 2021
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  5. 5
    Uncovering drug targets for cluster headache through proteome-wide Mendelian randomization analysis

    Uncovering drug targets for cluster headache through proteome-wide Mendelian randomization analysis by Zhonghua Xiong, Zhi Kai Guo, Lei Zhao, Dong Qiu, Yanliang Mei, Xiaoshuang Li, Peng Zhang, Mantian Zhang, Geyu Liu, Ting Gao, Bendik S Winsvold, Aster V. E. Harder, Caroline Ran, Mona Ameri Chalmer, Carolina Dalmasso, Egil Ferkingstad, Kumar Parijat Tripathi, Elena Bacchelli, Sigrid Børte, Carmen Fourier, Anja Sofie Petersen, Lisanne S. Vijfhuizen, Sigurður H. Magnússon, Emer O’Connor, Gyða Björnsdóttir, Paavo Häppölä, Yen‐Feng Wang, Ida Callesen, Tim Kelderman, Victor J Gallardo, Irene de Boer, Felicia Jennysdotter Olofsgård, Katja Heinze, Nunu Lund, Laurent F. Thomas, Chia‐Lin Hsu, Matti Pirinen, Heidi Hautakangas, Marta Ribasés, Simona Guerzoni, Prasanth Sivakumar, Janice Yip, Axel Heinze, Fahri Küçükali, Sisse Rye Ostrowski, Ole Birger Pedersen, Espen Saxhaug Kristoffersen, Amy E. Martinsen, María Soler Artigas, Susie Lagrata, Maria Michela Cainazzo, Joycee Adebimpe, Olivia Quinn, Hartmut Göbel, Anna Göbel, Alexander E. Volk, Stefanie Heilmann‐Heimbach, Anne Heidi Skogholt, Maiken E. Gabrielsen, Leopoldine A. Wilbrink, Daisuke Danno, Dwij Mehta, Daníel F. Guðbjartsson, Yonggang Wang, Xueying Yu

    Published 2025
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  6. 6
    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by 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

    Published 2019
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  7. 7
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects by Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    Published 2020
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  8. 8
    Cluster Headache Genomewide Association Study and Meta‐Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor

    Cluster Headache Genomewide Association Study and Meta‐Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor by Bendik S. Winsvold, Aster V. E. Harder, Caroline Ran, Mona Ameri Chalmer, Carolina Dalmasso, Egil Ferkingstad, Kumar Parijat Tripathi, Elena Bacchelli, Sigrid Børte, Carmen Fourier, Anja Sofie Petersen, Lisanne S. Vijfhuizen, Sigurður H. Magnússon, Emer O’Connor, Gyða Björnsdóttir, Paavo Häppölä, Yen‐Feng Wang, Ida Callesen, Tim Kelderman, Victor J Gallardo, Irene de Boer, Felicia Jennysdotter Olofsgård, Katja Heinze, Nunu Lund, Laurent F. Thomas, Chia‐Lin Hsu, Matti Pirinen, Heidi Hautakangas, Marta Ribasés, Simona Guerzoni, Prasanth Sivakumar, Janice Yip, Axel Heinze, Fahri Küçükali, Sisse Rye Ostrowski, Ole Birger Pedersen, Espen Saxhaug Kristoffersen, Amy E. Martinsen, María Soler Artigas, Susie Lagrata, Maria Michela Cainazzo, Joycee Adebimpe, Olivia Quinn, Carl Göbel, Anna Cirkel, Alexander E. Volk, Stefanie Heilmann‐Heimbach, Anne Heidi Skogholt, Maiken E. Gabrielsen, Leopoldine A. Wilbrink, Daisuke Danno, Dwij Mehta, Daníel F. Guðbjartsson, Frits R. Rosendaal, Ko Willems van Dijk, Rolf Fronczek, Michael Wagner, Martin Scherer, Hartmut Göbel, Kristel Sleegers, Ólafur Sveinsson, Luca Pani, Michèle Zoli, Josep Antoni Ramos‐Quiroga, Efthimios Dardiotis, Anna Steinberg, Steffi G. Riedel‐Heller, Christina Sjöstrand, Thorgeir E. Thorgeirsson, Hreinn Stefánsson, Laura Southgate, Richard C. Trembath, Jana Vandrovcová, Raymond Noordam, Koen Paemeleire, Hreinn Stefánsson, Cathy S.J. Fann, Elisabet Waldenlind, Erling Tronvik, Rigmor Jensen, Shih‐Pin Chen, Henry Houlden, Gisela M. Terwindt, Christian Kubisch, Elena Maestrini, Michail Vikelis, Patricia Pozo‐Rosich, Andrea Carmine Belin, Manjit Matharu, Arn M. J. M. van den Maagdenberg, Thomas Hansen, Alfredo Ramı́rez, John‐Anker Zwart

    Published 2023
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