检索结果 - Monique M. Ryan

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  1. 1
    Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy

    Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy 由 Didu Kariyawasam, Arlene D’Silva, Cindy Lin, Monique M. Ryan, Michelle A. Farrar

    出版 2019
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  2. 2
    Auditory function in children with Charcot-Marie-Tooth disease

    Auditory function in children with Charcot-Marie-Tooth disease 由 Gary Rance, Monique M. Ryan, K.L. Bayliss, K. Gill, Colm O’Sullivan, M. Whitechurch

    出版 2012
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  3. 3
    Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study

    Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study 由 Zoe E. Davidson, Monique M. Ryan, Andrew J. Kornberg, Kate Sinclair, Anita Cairns, Karen Z. Walker, Helen Truby

    出版 2014
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  4. 4
    A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

    A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy 由 Siaw H Wong, Belinda McClaren, Alison D. Archibald, Alice Weeks, Tess Langmaid, Monique M. Ryan, Andrew J. Kornberg, Sylvia A. Metcalfe

    出版 2015
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  5. 5
    Scientific rationale for a higher dose of nusinersen

    Scientific rationale for a higher dose of nusinersen 由 Richard S. Finkel, Monique M. Ryan, Samuel Ignacio Pascual Pascual, John Day, Eugenio Mercuri, Darryl C. De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel‐Giannetti, Drew MacCannell, Zdenek Berger

    出版 2022
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  6. 6
    A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

    A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene 由 Marina Kennerson, Eppie M. Yiu, David Chuang, Aditi Kidambi, Shih-Chia Tso, C. Ly, Rama Chaudhry, Alexander P. Drew, Gary Rance, Martin B. Delatycki, Stephan Züchner, Monique M. Ryan, Garth A. Nicholson

    出版 2013
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  7. 7
    DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

    DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results 由 Richard S. Finkel, John Day, Samuel Ignacio Pascual Pascual, Monique M. Ryan, Eugenio Mercuri, Darryl C. De Vivo, Jacqueline Montes, Juliana Gurgel‐Giannetti, Michael Monine, Giulia Gambino, Corinne Makepeace, Richard Foster, Zdenek Berger

    出版 2023
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  8. 8
    Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

    Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy 由 Arlene D’Silva, Sandra Holland, Didu Kariyawasam, Karen Herbert, Peter Barclay, Anita Cairns, Suzanna C. MacLennan, Monique M. Ryan, Hugo Sampaio, Nicholas M. A. Smith, Ian Woodcock, Eppie M. Yiu, Ian E. Alexander, Michelle A. Farrar

    出版 2022
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  9. 9
    Nusinersen for SMA: expanded access programme

    Nusinersen for SMA: expanded access programme 由 Michelle A. Farrar, Hooi Ling Teoh, Kate A. Carey, Anita Cairns, Robin Forbes, Karen Herbert, Sandra Holland, Kristi Jones, Manoj P. Menezes, Margot Morrison, Kate Munro, Daniella Villano, Richard Webster, Ian Woodcock, Eppie M. Yiu, Hugo Sampaio, Monique M. Ryan

    出版 2018
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  10. 10
    Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene

    Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene 由 Biljana Ilkovski, Sandra T. Cooper, Kristen L. Nowak, Monique M. Ryan, Nan Yang, Christina Schnell, Hayley J. Durling, Laurence G. Roddick, Ian B. Wilkinson, Andrew J. Kornberg, Kevin Collins, Geoff Wallace, Peter W. Gunning, Edna C. Hardeman, Nigel G. Laing, Kathryn N. North

    出版 2001
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  11. 11
    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia 由 Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik–Schöneborn, Kate Pope, Katherine B. Howell, Catriona McLean, Andrew J. Kornberg, Jörg Joseph, Paul J. Lockhart, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Carla M. Koehler, Joanna C. Jen

    出版 2016
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  12. 12
    Neurofilament as a potential biomarker for spinal muscular atrophy

    Neurofilament as a potential biomarker for spinal muscular atrophy 由 Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guolin Zhao, John F. Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J. Sumner

    出版 2019
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  13. 13
    Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy

    Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy 由 Diana M. Escolar, Lauren P. Hache, Paula R. Clemens, Avital Cnaan, Craig M. McDonald, Viswanathan Venkataraman, Andrew J. Kornberg, T. E. Bertoríni, Yoram Nevo, Timothy Lotze, Alan Pestronk, Monique M. Ryan, Eugenio Monasterio, John Day, Andrew Zimmerman, A. Arrieta, Erik Henricson, J. Mayhew, Julaine Florence, F. Hu, Anne M. Connolly

    出版 2011
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  14. 14
    Natural history of pulmonary function in collagen VI-related myopathies

    Natural history of pulmonary function in collagen VI-related myopathies 由 A. Reghan Foley, Susana Quijano‐Roy, James J. Collins, Volker Straub, Michelle McCallum, Nicolas Deconinck, Eugenio Mercuri, Marika Pane, Adele D’Amico, Enrico Bertini, Kathryn N. North, Monique M. Ryan, Pascale Richard, Valérie Allamand, Debbie Hicks, Shireen R. Lamandé, Ying Hu, Francesca Gualandi, Sungyoung Auh, Francesco Muntoni, Carsten G. Bönnemann

    出版 2013
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  15. 15
    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy 由 Maie Walsh, Katrina M. Bell, Belinda Chong, Emma Creed, Gemma R. Brett, Kate Pope, Natalie Thorne, Simon Sadedin, Peter Georgeson, Dean Phelan, Timothy Day, Jessica Taylor, Adrienne Sexton, Paul J. Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara Gaff, Alicia Oshlack, Eppie M. Yiu, Paul A. James, Zornitza Stark, Monique M. Ryan

    出版 2017
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  16. 16
    A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

    A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice 由 Ian Woodcock, George Tachas, Nuket Desem, Peter J. Houweling, Michael Kean, Jaiman Emmanuel, Rachel A. Kennedy, Kate Carroll, Katy de Valle, Justine Adams, Shireen R. Lamandé, Chantal A. Coles, Chrystal F. Tiong, Matthew J. Burton, Daniella Villano, Peter Button, Jean‐Yves Hogrel, Sarah Catling-Seyffer, Monique M. Ryan, Martin B. Delatycki, Eppie M. Yiu

    出版 2024
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  17. 17
    Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

    Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia 由 Seo‐Kyung Chung, Jean-François Vanbellinghen, Jonathan G.L. Mullins, Angela K. Robinson, Janina Hantke, Chrissy L. Hammond, Daniel F. Gilbert, Michael Freilinger, Monique M. Ryan, Michael C. Kruer, Amira Masri, Candan Gürses, C D Ferrie, Kirsten Harvey, Rita Shiang, John Christodoulou, Frédérick Andermann, E. Andermann, Rhys H. Thomas, Victoria L. Harvey, Joseph W. Lynch, Mark I. Rees

    出版 2010
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  18. 18
    Pontocerebellar hypoplasia type 1

    Pontocerebellar hypoplasia type 1 由 Sabine Rudnik–Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul‐Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, László Sztriha, J. Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, P. G. Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres

    出版 2013
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  19. 19
    Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration 由 Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik–Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul‐Neumann, Andrew J. Kornberg, Manuel Castro‐Gago, María Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen

    出版 2012
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  20. 20
    De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

    De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea 由 Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan, Michael F. Wangler, Angela E. Scheuerle, Elaine H. Zackai, Margaret Harr, V. Reid Sutton, Roopa L. Nalam, Wenmiao Zhu, Margot Nash, Monique M. Ryan, Joy Yaplito‐Lee, Jill V. Hunter, Matthew A. Deardorff, Samantha Penney, Arthur L. Beaudet, Sharon E. Plon, Eric Boerwinkle, James R Lupski, Christine M. Eng, Donna M. Muzny, Yaping Yang, Richard A. Gibbs

    出版 2014
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