檢索結果 - Katherine D. Mathews

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  1. 1
    Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy

    Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy 由 Katie Lutz, Lenore Holte, Stephanie Kliethermes‌, Carrie Stephan, Katherine D. Mathews

    出版 2013
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  2. 2
    Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network

    Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network 由 Kristin Caspers Conway, Katherine D. Mathews, Pangaja Paramsothy, Joyce Oleszek, Christina Trout, Ying Zhang, Paul A. Romitti

    出版 2015
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  3. 3
    LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle

    LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle 由 George Dialynas, Kaitlin M. Flannery, Luka N. Zirbel, Péter L. Nagy, Katherine D. Mathews, Steven A. Moore, Lori L. Wallrath

    出版 2011
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  4. 4
    Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence

    Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence 由 Jessica K. Lee, Amy L. Conrad, Eric A. Epping, Katherine D. Mathews, Vincent A. Magnotta, Jeffrey D. Dawson, Peg Nopoulos

    出版 2018
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  5. 5
    Measures of growth in children at risk for Huntington disease

    Measures of growth in children at risk for Huntington disease 由 Jessica K. Lee, Katherine D. Mathews, Bradley L. Schlaggar, Joel S. Perlmutter, Jane S. Paulsen, Eric A. Epping, Leon F. Burmeister, Peg Nopoulos

    出版 2012
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  6. 6
    Practice Parameter: Corticosteroid treatment of Duchenne dystrophy [RETIRED]

    Practice Parameter: Corticosteroid treatment of Duchenne dystrophy [RETIRED] 由 Richard T. Moxley, Stephen Ashwal, S. Pandya, Anne M. Connolly, Julaine Florence, Katherine D. Mathews, L. Baumbach, Craig M. McDonald, Michael D. Sussman, Christine Wade

    出版 2005
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  7. 7
    Brain structure in juvenile-onset Huntington disease

    Brain structure in juvenile-onset Huntington disease 由 А.В. Терещенко, Vincent A. Magnotta, Eric A. Epping, Katherine D. Mathews, Patricia Espe‐Pfeifer, Erin Martin, Jeffrey D. Dawson, Wenzhen Duan, Peg Nopoulos

    出版 2019
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  8. 8
    Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy

    Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy 由 Kristin M. Conway, Shiny Thomas, Tahereh Neyaz, Emma Ciafaloni, Joshua R. Mann, M.L. Staron-Ehlinger, Gary S. Beasley, Paul A. Romitti, Katherine D. Mathews

    出版 2025
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  9. 9
    <i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

    <i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation 由 Braden S. Jensen, Tobias Willer, Dimah Saade, Mary O. Cox, Tahseen Mozaffar, Mena Scavina, Vikki Stefans, Thomas Winder, Kevin P. Campbell, Steven A. Moore, Katherine D. Mathews

    出版 2015
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  10. 10
    Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000‐2015

    Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000‐2015 由 Shiny Thomas, Kristin M. Conway, Olushola Fapo, Natalie Street, Katherine D. Mathews, Joshua R. Mann, Paul A. Romitti, Aida Soim, Christina Westfield, Deborah Fox, Emma Ciafaloni

    出版 2022
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  11. 11
    Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design

    Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design 由 Lisa S. Friedman, Jennifer Farmer, Susan Perlman, George Wilmot, Christopher M. Gómez, Khalaf Bushara, Katherine D. Mathews, S. H. Subramony, Tetsuo Ashizawa, Laura J. Balcer, Robert B. Wilson, David R. Lynch

    出版 2010
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  12. 12
    Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet

    Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet 由 Emma Ciafaloni, Anil Kumar, Ke Liu, Shree Pandya, Christina Westfield, Deborah Fox, Kristin M. Conway, Christopher Cunniff, Katherine D. Mathews, Nancy A. West, Paul A. Romitti, Michael McDermott

    出版 2016
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  13. 13
    Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Case Definition in Surveillance for Childhood-Onset Duchenne/Becker Muscular Dystrophy

    Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Case Definition in Surveillance for Childhood-Onset Duchenne/Becker Muscular Dystrophy 由 Katherine D. Mathews, Chris Cunniff, Jiji Kantamneni, Emma Ciafaloni, Timothy M. Miller, Dennis J. Matthews, Valerie Cwik, Charlotte M. Druschel, Lisa A. Miller, F. John Meaney, John T. Sladky, Paul A. Romitti

    出版 2010
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  14. 14
    SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

    SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency 由 Adriana Rebelo, Dimah Saade, Cláudia V. Pereira, Amjad Farooq, Tyler C. Huff, Lisa Abreu, Carlos T. Moraes, Diana Mnatsakanova, Katherine D. Mathews, Hua Yang, Eric A. Schon, Stephan Züchner, Michael E. Shy

    出版 2017
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  15. 15
    Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

    Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) 由 Emma Ciafaloni, Deborah Fox, Shree Pandya, Christina Westfield, Soman Puzhankara, Paul A. Romitti, Katherine D. Mathews, Timothy M. Miller, Dennis J. Matthews, Lisa A. Miller, Christopher Cunniff, Charlotte M. Druschel, Richard T. Moxley

    出版 2009
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  16. 16
    Diagnostic approach to the congenital muscular dystrophies

    Diagnostic approach to the congenital muscular dystrophies 由 Carsten G. Bönnemann, Ching H. Wang, Susana Quijano‐Roy, Nicolas Deconinck, Enrico Bertini, Ana Ferreiro, Francesco Muntoni, Caroline Sewry, Christophe Béroud, Katherine D. Mathews, Steven A. Moore, Jonathan Bellini, Anne Rutkowski, Kathryn N. North

    出版 2014
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  17. 17
    Genotype-phenotype correlations in recessive RYR1-related myopathies

    Genotype-phenotype correlations in recessive RYR1-related myopathies 由 Kimberly Amburgey, Angela M. Bailey, J.H. Hwang, Mark A. Tarnopolsky, Carsten G. Bönnemann, Līvija Medne, Katherine D. Mathews, James J. Collins, Jasper R. Daube, Gregory P. Wellman, Brian C. Callaghan, Nigel F. Clarke, James J. Dowling

    出版 2013
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  18. 18
    Psychometric properties of the Friedreich Ataxia Rating Scale

    Psychometric properties of the Friedreich Ataxia Rating Scale 由 Christian Rummey, Louise A. Corben, Martin B. Delatycki, S. H. Subramony, Khalaf Bushara, Christopher M. Gómez, J. Chad Hoyle, Grace Yoon, Bernard Ravina, Katherine D. Mathews, George Wilmot, Theresa A. Zesiewicz, Susan Perlman, Jennifer Farmer, David R. Lynch

    出版 2019
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  19. 19
    Spinal muscular atrophy care in the COVID‐19 pandemic era

    Spinal muscular atrophy care in the COVID‐19 pandemic era 由 Aravindhan Veerapandiyan, Anne M. Connolly, Richard S. Finkel, Kapil Arya, Katherine D. Mathews, Edward C. Smith, Diana Castro, Russell J. Butterfield, Julie Parsons, Laurent Servais, Nancy L. Kuntz, Vamshi K. Rao, John F. Brandsema, Eugenio Mercuri, Emma Ciafaloni

    出版 2020
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  20. 20
    Sex‐specific effects of the Huntington gene on normal neurodevelopment

    Sex‐specific effects of the Huntington gene on normal neurodevelopment 由 Jessica K. Lee, Yue Ding, Amy L. Conrad, Elena Cattaneo, Eric A. Epping, Katherine D. Mathews, Pedro Gonzalez‐Alegre, Larry Cahill, Vincent A. Magnotta, Bradley L. Schlaggar, Joel S. Perlmutter, Regina E. Y. Kim, Jeffrey D. Dawson, Peg Nopoulos

    出版 2016
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