Resultats de la cerca - Chris Turner

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  1. 1
    Disrupting the SKN-1 homeostat: mechanistic insights and phenotypic outcomes

    Disrupting the SKN-1 homeostat: mechanistic insights and phenotypic outcomes per Chris Turner, Carmen M. Ramos, Sean P. Curran

    Publicat 2024
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  2. 2
    Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

    Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy per Germán Morís, Libby Wood, Roberto Fernández‐Torrón, José Andrés González Coraspe, Chris Turner, David Hilton‐Jones, Fiona Norwood, Tracey Willis, Matt Parton, Mark Rogers, Simon Hammans, Mark Roberts, Elizabeth Househam, Maggie Williams, Hanns Lochmüller, Teresinha Evangelista

    Publicat 2017
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  3. 3
    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies per R. Scalco, A. Gardiner, Robert D. S. Pitceathly, David Hilton‐Jones, Anthony H.V. Schapira, Chris Turner, Matt Parton, M. Desikan, Rita Barresi, Julie Marsh, Adnan Y. Manzur, Anne‐Marie Childs, Lucy Feng, Elaine Murphy, Phillipa J. Lamont, Gianina Ravenscroft, William Wallefeld, Mark R. Davis, Nigel G. Laing, Janice L. Holton, Doreen Fialho, Kate Bushby, Michael G. Hanna, Rahul Phadke, Heinz Jungbluth, Henry Houlden, Rosaline C. M. Quinlivan

    Publicat 2016
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  4. 4
    Increased frequency of repeat expansion mutations across different populations

    Increased frequency of repeat expansion mutations across different populations per Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J. Hensman Moss, Jana Vandrovcová, Clarissa Rocca, Loukas Moutsianas, Chiara Marini‐Bettolo, Helen Walker, Chris Turner, Maryam Shoai, Jeffrey D. Long, Pietro Fratta, Douglas R. Langbehn, Sarah J. Tabrizi, Mark J. Caulfield, Andrea Cortese, Valentina Escott‐Price, John Hardy, Henry Houlden, Andrew J. Sharp, Arianna Tucci

    Publicat 2024
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  5. 5
    Neuronal intranuclear inclusion disease is genetically heterogeneous

    Neuronal intranuclear inclusion disease is genetically heterogeneous per 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

    Publicat 2020
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  6. 6
    <i>ANO5</i>Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

    <i>ANO5</i>Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation per Anna Sárközy, Debbie Hicks, Judith A. Hudson, S.H. Laval, Rita Barresi, David Hilton‐Jones, Marcus Deschauer, Elizabeth Harris, Laura Rufibach, Esther Hwang, Rumaisa Bashir, Maggie C. Walter, Sabine Krause, Peter Van den Bergh, Isabel Illa, I. Pénisson-Besnier, Liesbeth De Waele, Douglass M. Turnbull, Michela Guglieri, Bertold Schrank, Benedikt Schoser, Jürgen Seeger, Herbert Schreiber, Dieter Gläser, Michelle Eagle, Geraldine Bailey, R. J. Walters, Cheryl Longman, Fiona Norwood, J. Winer, Francesco Muntoni, Michael G. Hanna, Mark Roberts, Laurence A. Bindoff, Charlotte Brierley, Robert G. Cooper, David A. Cottrell, Nick Davies, Andrew Gibson, Gráinne S. Gorman, Simon Hammans, Andrew P. Jackson, Aijaz Khan, Russell J.M. Lane, John McConville, Meriel McEntagart, A. Al‐Memar, John Nixon, Jay Panicker, Matt Parton, Richard Petty, Christopher J. Price, Wojtek Rakowicz, Partha S. Ray, Anthony H.V. Schapira, Robert Swingler, Chris Turner, Kathryn R. Wagner, Paul Maddison, Pamela J. Shaw, Volker Straub, Kate Bushby, Hanns Lochmüller

    Publicat 2013
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  7. 7
    Consensus-based care recommendations for adults with myotonic dystrophy type 1

    Consensus-based care recommendations for adults with myotonic dystrophy type 1 per Tetsuo Ashizawa, Cynthia Gagnon, William J. Groh, Laurie Gutmann, Nicholas E. Johnson, G. Meola, Richard T. Moxley, Shree Pandya, Mark T. Rogers, Ericka Simpson, Nathalie Angeard, Guillaume Bassez, Kiera N. Berggren, Deepak Bhakta, Marco Bozzali, Ann Broderick, Janice L. B. Byrne, Craig Campbell, Edith H. C. Cup, John Day, Elisa De Mattia, Denis Duboc, Tina Duong, Katy Eichinger, Anne‐Berit Ekström, Baziel G.M. van Engelen, Belen Esparis, B. Eymard, Marla B. Ferschl, Shahinaz M. Gadalla, Benjamin Gallais, Todd Goodglick, Chad Heatwole, James E. Hilbert, Venessa Holland, Marie Kierkegaard, Wilma J. Koopman, Kari R. Lane, Daphne Maas, Ami Mankodi, Katherine D. Mathews, Darren G. Monckton, David J. Moser, Saman Nazarian, Linda Nguyen, Peg Nopoulos, Richard Petty, Janel Phetteplace, Jack Puymirat, Subha V. Raman, Louis Richer, Elisabetta Roma, Jacinda B. Sampson, Valeria Sansone, Benedikt Schoser, Laurie Sterling, Jeffrey Statland, S. H. Subramony, Cuixia Tian, Careniña Trujillo, Gordon F. Tomaselli, Chris Turner, Shannon L. Venance, Aparajitha Verma, Molly White, Stefan Winblad

    Publicat 2018
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