Search Results - Monique M. Ryan

Refine Results
  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 by Didu Kariyawasam, Arlene D’Silva, Cindy Lin, Monique M. Ryan, Michelle A. Farrar

    Published 2019
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Auditory function in children with Charcot-Marie-Tooth disease

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

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Zoe E. Davidson, Monique M. Ryan, Andrew J. Kornberg, Kate Sinclair, Anita Cairns, Karen Z. Walker, Helen Truby

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Siaw H Wong, Belinda McClaren, Alison D. Archibald, Alice Weeks, Tess Langmaid, Monique M. Ryan, Andrew J. Kornberg, Sylvia A. Metcalfe

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Scientific rationale for a higher dose of nusinersen

    Scientific rationale for a higher dose of nusinersen by 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

    Published 2022
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2023
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2022
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Nusinersen for SMA: expanded access programme

    Nusinersen for SMA: expanded access programme by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2001
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia by 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

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Neurofilament as a potential biomarker for spinal muscular atrophy

    Neurofilament as a potential biomarker for spinal muscular atrophy by 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

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Natural history of pulmonary function in collagen VI-related myopathies

    Natural history of pulmonary function in collagen VI-related myopathies by 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

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy by 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

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2024
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

    Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia by 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

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Pontocerebellar hypoplasia type 1

    Pontocerebellar hypoplasia type 1 by 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

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: