Hasil Pencarian - Katherine D Mathews

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  1. 1
    Needs management in families affected by childhood-onset dystrophinopathies

    Needs management in families affected by childhood-onset dystrophinopathies oleh Kristin M Conway, Katy Eichinger, Christina Trout, Paul A Romitti, Katherine D Mathews, Shree K Pandya

    Diterbitkan 2019-03-01
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  2. 2
    Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

    Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 oleh Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews

    Diterbitkan 2023-06-01
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  3. 3
    The Influence of a Genetic Variant in <i>CCDC78</i> on <i>LMNA</i>-Associated Skeletal Muscle Disease

    The Influence of a Genetic Variant in <i>CCDC78</i> on <i>LMNA</i>-Associated Skeletal Muscle Disease oleh Nathaniel P. Mohar, Efrem M. Cox, Emily Adelizzi, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Lori L. Wallrath

    Diterbitkan 2024-04-01
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  4. 4
    Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR<i>net</i>)

    Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR<i>net</i>) oleh Katherine D. Mathews, Kristin M. Conway, Amber M. Gedlinske, Nicholas Johnson, Natalie Street, Russell J. Butterfield, Man Hung, Emma Ciafaloni, Paul A. Romitti

    Diterbitkan 2021-09-01
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  5. 5
    Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study

    Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study oleh Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium

    Diterbitkan 2024-03-01
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  6. 6
    A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

    A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy oleh Agathe Marcelot, Felipe Rodriguez-Tirado, Philippe Cuniasse, Mei-ling Joiner, Simona Miron, Alexey A. Soshnev, Mimi Fang, Miles A. Pufall, Katherine D. Mathews, Steven A. Moore, Sophie Zinn-Justin, Pamela K. Geyer

    Diterbitkan 2023-03-01
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  7. 7
    Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

    Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data oleh David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer

    Diterbitkan 2024-01-01
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  8. 8
    Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort

    Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort oleh Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch

    Diterbitkan 2021-06-01
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  9. 9
    Medical management of muscle weakness in Duchenne muscular dystrophy.

    Medical management of muscle weakness in Duchenne muscular dystrophy. oleh Sarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, Gyula Acsadi, John Brandsema, Emma Ciafaloni, Basil T Darras, Susan T Iannaccone, Chamindra G Konersman, Nancy L Kuntz, Craig M McDonald, Julie A Parsons, Carolina Tesi Rocha, Craig M Zaidman, Russell J Butterfield, Anne M Connolly, Katherine D Mathews

    Diterbitkan 2020-01-01
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  10. 10
    Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians

    Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians oleh Aravindhan Veerapandiyan, Anne M. Connolly, Katherine D. Mathews, Stanley Nelson, Craig McDonald, Richard S. Finkel, Vettaikorumakankav Vedanarayanan, Cuixia Tian, Susan Apkon, Julie A. Parsons, Jonathan H. Soslow, William Bryan Burnette, Kaitlin Y. Batley, Susan T. Iannaccone, Carolina Tesi Rocha, Kevin M. Flanigan, Diana Bharucha‐Goebel, Sarah Wright, Migvis Monduy, Simona Treidler, Ashutosh Kumar, Nancy L. Kuntz, Vamshi K. Rao, Rachel Schrader, Saunder M. Bernes, Vikki Ann Stefans, Jena M. Krueger, Marcia V. Felker, Omer Abdul Hamid, Arpita Lakhotia, Susan Matesanz, Partha S. Ghosh, Natalie Katz, Hoda Abdel‐Hamid, Chamindra G. Laverty, Bo Hoon Lee, Amy Harper, Leigh Ramos‐Platt, Diana Castro, Russell J. Butterfield, Crystal M. Proud, Craig M. Zaidman, Emma Ciafaloni

    Diterbitkan 2024-09-01
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