Resultados da busca - Prasanth Sivakumar

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  1. 1
    Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

    Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice por Anny Devoy, Bernadett Kalmár, Michelle Stewart, Heesoon Park, Beverley Burke, Suzanna Noy, Yushi Redhead, Jack Humphrey, Kitty Lo, Julian Jaeger, Alan Mejia Maza, Prasanth Sivakumar, Cinzia Bertolin, Gianni Sorarù, Vincent Plagnol, Linda Greensmith, Abraham Acevedo‐Arozena, Adrian M. Isaacs, Benjamin Davies, Pietro Fratta, Elizabeth Fisher

    Publicado em 2017
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  2. 2
    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia por Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nicholas Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

    Publicado em 2019
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  3. 3
    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia por Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nicholas Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

    Publicado em 2019
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  4. 4
    Neuronal intranuclear inclusion disease is genetically heterogeneous

    Neuronal intranuclear inclusion disease is genetically heterogeneous por Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, Arianna Tucci, Prasanth Sivakumar, Sarah A. Gagliano Taliun, Chris Turner, Stéphanie Efthymiou, Kristina Ibáñez, Roisin Sullivan, Farah Bibi, Alkyoni Athanasiou‐Fragkouli, Thomas Bourinaris, David Zhang, Tamás Révész, Tammaryn Lashley, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Ellen Gelpí, Gábor G. Kovács, Glenda M. Halliday, Dominic B. Rowe, Ian P. Blair, Pentti J. Tienari, Anu Suomalainen, Nick C. Fox, Nicholas Wood, Andrew J. Lees, Matti Haltia, John Hardy, Mina Ryten, Jana Vandrovcová, Henry Houlden

    Publicado em 2020
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  5. 5
    Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache

    Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache por 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

    Publicado em 2021
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  6. 6
    Mice with endogenous <scp>TDP</scp> ‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

    Mice with endogenous <scp>TDP</scp> ‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis por Pietro Fratta, Prasanth Sivakumar, Jack Humphrey, Kitty Lo, Thomas C. Ricketts, Hugo M. De Oliveira, José Miguel Brito Armas, Bernadett Kalmár, Agnieszka M Ule, Yichao Yu, Nicol Birsa, Cristian Bodo, Toby Collins, Alexander E. Conicella, Alan Mejia Maza, Alessandro Marrero‐Gagliardi, Michelle Stewart, Joffrey Mianné, Silvia Corrochano, Warren Emmett, Gemma Codner, Michael J. Groves, Ryutaro Fukumura, Yoichi Gondo, Mark F. Lythgoe, Erwin Pauws, Emma Peskett, Philip Stanier, Lydia Teboul, Martina Hallegger, Andrea Calvo, Adriano Chió, Adrian M. Isaacs, Nicolas L. Fawzi, Eric T. Wang, David E. Housman, Francisco E. Baralle, Linda Greensmith, Emanuele Buratti, Vincent Plagnol, Elizabeth Fisher, Abraham Acevedo‐Arozena

    Publicado em 2018
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  7. 7
    Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

    Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia por Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna‐Leigh Brown, Sarah E. Hill, Jennifer M. Kachergus, Jianhua Shi, Michael G. Heckman, Matthew R. Spiegel, Casey Cook, Yuping Song, Mei Yue, Lillian M. Daughrity, Yari Carlomagno, Karen Jansen‐West, Cristhoper Fernandez De Castro, Michael DeTure, Shunsuke Koga, Ying‐Chih Wang, Prasanth Sivakumar, Cristian Bodo, Ana Candalija, Kevin Talbot, Bhuvaneish T. Selvaraj, Karen Burr, Siddharthan Chandran, Jia Newcombe, Tammaryn Lashley, Isabel Hubbard, Demetra Catalano, Duyang Kim, Nadia Propp, Samantha Fennessey, Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth Fisher, Björn Oskarsson, Marka van Blitterswijk, Rosa Rademakers, N. R. Graff-Radford, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Keith A. Josephs, E. Aubrey Thompson, Towfique Raj, Michael E. Ward, Dennis W. Dickson, Tania F. Gendron, Pietro Fratta, Leonard Petrucelli

    Publicado em 2020
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  8. 8
    Uncovering drug targets for cluster headache through proteome-wide Mendelian randomization analysis

    Uncovering drug targets for cluster headache through proteome-wide Mendelian randomization analysis por 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

    Publicado em 2025
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  9. 9
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data por Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    Publicado em 2021
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  10. 10
    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 por 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

    Publicado em 2023
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  11. 11
    Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population

    Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population por Matteo Zanovello, Kristina Ibáñez, Anna‐Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, Liana Santos, Joke J.F.A. van Vugt, Giuseppe Narzisi, Ramita Karra, Sonja W. Scholz, Jinhui Ding, J. Raphael Gibbs, Adriano Chiò, Clifton L. Dalgard, Ben Weisburd, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, Robert B. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood, Wouter van Rheenen, Sara L. Pulit, Annelot M. Dekker, Ahmad Al Khleifat, William J Brands, Alfredo Iacoangeli, Kevin P. Kenna, Erşen Kavak, Maarten Kooyman, Russell L. McLaughlin, Bas Middelkoop, Matthieu Moisse, Raymond D. Schellevis, Aleksey Shatunov, William Sproviero, Gijs H.P. Tazelaar, Rick A A Van der Spek, Perry T C Van Doormaal, Kristel R. van Eijk, Joke J.F.A. van Vugt, A Nazli Basak, Ian P. Blair, Jonathan D. Glass, Orla Hardiman, Yoshihide Hayashizaki, John E. Landers, Jesús S. Mora, Karen Morrison

    Publicado em 2023
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