检索结果 - Benjamin O’Callaghan

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  1. 1
    An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

    An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency 由 Benjamin O’Callaghan, Annet M. Bosch, Henry Houlden

    出版 2019
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  2. 2
    Pathophysiology of Dyt1- <i>Tor1a</i> dystonia in mice is mediated by spinal neural circuit dysfunction

    Pathophysiology of Dyt1- <i>Tor1a</i> dystonia in mice is mediated by spinal neural circuit dysfunction 由 Amanda Pocratsky, Filipe Nascimento, Mustafa Görkem Özyurt, Ian J. White, Roisin Sullivan, Benjamin O’Callaghan, Calvin C. Smith, Sunaina Surana, Marco Beato, Robert M. Brownstone

    出版 2023
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    Artigo
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  3. 3
    A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

    A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms 由 Marisol Sampedro Castañeda, Edmar Zanoteli, R. Scalco, Vinicius Scaramuzzi, Vitor Marques Caldas, Umbertina Conti Reed, André Macedo Serafim Silva, Benjamin O’Callaghan, Rahul Phadke, Enrico Bugiardini, Richa Sud, Samuel McCall, Michael G. Hanna, Hanne Poulsen, Roope Männikkö, Emma Matthews

    出版 2018
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    Artigo
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  4. 4
    Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci

    Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci 由 Marc P. M. Soutar, Daniela Melandri, Benjamin O’Callaghan, Emily Annuario, Amy E. Monaghan, Natalie J. Welsh, Karishma D’Sa, Sebastian Guelfi, David Zhang, Alan Pittman, Daniah Trabzuni, Anouk H. A. Verboven, Kylie S. Pan, Demis A. Kia, Magda Bictash, Sonia Gandhi, Henry Houlden, Mark Cookson, Nael Nadif Kasri, Nicholas Wood, Andrew Singleton, John Hardy, Paul J. Whiting, Cornelis Blauwendraat, Alexander J. Whitworth, Claudia Manzoni, Mina Ryten, Patrick A. Lewis, Hélène Plun‐Favreau

    出版 2022
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  5. 5
    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification 由 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

    出版 2020
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    Artigo
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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 由 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

    出版 2019
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