檢索結果 - Diana Bharucha‐Goebel

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  1. 1
    Treatment Advances in Spinal Muscular Atrophy

    Treatment Advances in Spinal Muscular Atrophy 由 Diana Bharucha‐Goebel, Petra Kaufmann

    出版 2017
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  2. 2
    High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report

    High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report 由 Vanessa Ogueri, Jessica X. Chong, Melissa Fleming, Kara Simpson, Elizabeth D. Sherwin, Diana Bharucha‐Goebel, Christopher F. Spurney

    出版 2025
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  3. 3
    Novel De Novo Mutations in <i>KIF1A</i> as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

    Novel De Novo Mutations in <i>KIF1A</i> as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement 由 Leslie Hotchkiss, Sandra Donkervoort, M. Leach, Payam Mohassel, Diana Bharucha‐Goebel, Nathaniel Bradley, David Nguyen, Ying Hu, Juliana Gurgel‐Giannetti, Carsten G. Bönnemann

    出版 2016
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  4. 4
    Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter

    Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter 由 Kristopher T. Kahle, Bianca Flores, Diana Bharucha‐Goebel, Jinwei Zhang, Sandra Donkervoort, Madhuri Hegde, Gulnaz Begum, Daniel Durán, Bo Liang, Dandan Sun, Carsten G. Bönnemann, Eric Delpire

    出版 2016
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  5. 5
    Severe congenital <i>RYR1</i> -associated myopathy

    Severe congenital <i>RYR1</i> -associated myopathy 由 Diana Bharucha‐Goebel, Mariarita Santi, Līvija Medne, Kristin Zukosky, Jahannaz Dastgir, Perry B. Shieh, Thomas Winder, Gihan Tennekoon, Richard S. Finkel, James J. Dowling, Nicole Monnier, Carsten G. Bönnemann

    出版 2013
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  6. 6
    Homozygous boricua <i>TBCK</i> mutation causes neurodegeneration and aberrant autophagy

    Homozygous boricua <i>TBCK</i> mutation causes neurodegeneration and aberrant autophagy 由 Xilma R. Ortiz‐González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A. Reghan Foley, Diana Bharucha‐Goebel, Sudha Kilaru Kessler, Sabrina W. Yum, Peter B. Crino, Miao He, Douglas C. Wallace, Carsten G. Bönnemann

    出版 2017
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  7. 7
    PIEZO2 mediates injury-induced tactile pain in mice and humans

    PIEZO2 mediates injury-induced tactile pain in mice and humans 由 Marcin Szczot, Jaquette Liljencrantz, Nima Ghitani, Arnab Barik, Ruby M. Lam, James H. Thompson, Diana Bharucha‐Goebel, Dimah Saade, Aaron Necaise, Sandra Donkervoort, A. Reghan Foley, Taylor M. Gordon, Laura Case, M. Catherine Bushnell, Carsten G. Bönnemann, Alexander T. Chesler

    出版 2018
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  8. 8
    The Role of <i>PIEZO2</i> in Human Mechanosensation

    The Role of <i>PIEZO2</i> in Human Mechanosensation 由 Alexander T. Chesler, Marcin Szczot, Diana Bharucha‐Goebel, Marta Čeko, Sandra Donkervoort, Claire Laubacher, Leslie H. Hayes, Katharine E. Alter, Cristiane Zampieri, C. J. Stanley, A. Micheil Innes, Jean K. Mah, Carla Grosmann, Nathaniel Bradley, David Nguyen, A. Reghan Foley, Claire E. Le Pichon, Carsten G. Bönnemann

    出版 2016
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  9. 9
    Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

    Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy 由 D T Burns, Sandra Donkervoort, Juliane Müller, Ellen Knierim, Diana Bharucha‐Goebel, Eissa Faqeih, Stephanie Bell, Abdullah Alfaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Scavina, Laura Baker, Tara Massini, Monkol Lek, Ying Hu, Daniel Ezzo, Fowzan S. Alkuraya, Peter B. Kang, Helen Griffin, A. Reghan Foley, Markus Schuelke, Rita Horváth, Carsten G. Bönnemann

    出版 2018
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  10. 10
    The Clinical Outcome Study for dysferlinopathy

    The Clinical Outcome Study for dysferlinopathy 由 Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, M. James, K. Bettinson, U. Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana Bharucha‐Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John Day, Jordi Díaz‐Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori‐Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber‐Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, Maggie C. Walter, Kate Bushby

    出版 2016
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  11. 11
    Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

    Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy 由 Joel A. Morales‐Rosado, Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh Cong, Timothy Lotze, Carrie Mohila, Dimah Saade, Diana Bharucha‐Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee

    出版 2023
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  12. 12
    Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

    Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials 由 Jordi Díaz‐Manera, Roberto Fernández‐Torrón, Jaume Llauger, M. James, Anna Mayhew, Fiona E. Smith, U. Moore, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Plavi Mittal, Michelle Eagle, Marni Jacobs, Tim Hodgson, Dorothy Wallace, Louise Ward, Mark D. Smith, Roberto Stramare, Alessandro Rampado, Noriko Sato, Takeshi Tamaru, Bruce Harwick, Susana Rico Gala, Suna Turk, Eva Coppenrath, Glenn Foster, David Bendahan, Yann Le Fur, Stanley T. Fricke, Hansel J. Otero, Sheryl Foster, Anthony Peduto, A. Sawyer, H. Hilsden, Hanns Lochmüller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John Day, Kristi Jones, Diana Bharucha‐Goebel, Emmanuelle Salort‐Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber‐Katz, Maggie C. Walter, Carmen Paradas, Jean‐Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori‐Yoshimura, Elena Bravver, Susan Sparks, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub

    出版 2018
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  13. 13
    Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Congenital Titinopathy: Comprehensive characterization and pathogenic insights 由 Emily C. Oates, Kristi Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair Corbett, Monique M. Ryan, Gina O’Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, M. Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, M. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James J. Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola Foulds, Marjorie Illingworth, Sian Ellard, Catriona McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, C. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

    出版 2018
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