Rezultati - 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 od Katie Lutz, Lenore Holte, Stephanie Kliethermes‌, Carrie Stephan, Katherine D. Mathews

    Izdano 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 od Kristin Caspers Conway, Katherine D. Mathews, Pangaja Paramsothy, Joyce Oleszek, Christina Trout, Ying Zhang, Paul A. Romitti

    Izdano 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 od George Dialynas, Kaitlin M. Flannery, Luka N. Zirbel, Péter L. Nagy, Katherine D. Mathews, Steven A. Moore, Lori L. Wallrath

    Izdano 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 od Jessica K. Lee, Amy L. Conrad, Eric A. Epping, Katherine D. Mathews, Vincent A. Magnotta, Jeffrey D. Dawson, Peg Nopoulos

    Izdano 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 od Jessica K. Lee, Katherine D. Mathews, Bradley L. Schlaggar, Joel S. Perlmutter, Jane S. Paulsen, Eric A. Epping, Leon F. Burmeister, Peg Nopoulos

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

    Practice Parameter: Corticosteroid treatment of Duchenne dystrophy [RETIRED] od 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

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

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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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) od 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

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

    Diagnostic approach to the congenital muscular dystrophies od 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

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

    Genotype-phenotype correlations in recessive RYR1-related myopathies od 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

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

    Psychometric properties of the Friedreich Ataxia Rating Scale od 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

    Izdano 2019
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  19. 19
    Sex‐specific effects of the Huntington gene on normal neurodevelopment

    Sex‐specific effects of the Huntington gene on normal neurodevelopment od 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

    Izdano 2016
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  20. 20
    Efficacy of Omaveloxolone in Friedreich's Ataxia: <scp>Delayed‐Start</scp> Analysis of the <scp>MOXIe</scp> Extension

    Efficacy of Omaveloxolone in Friedreich's Ataxia: <scp>Delayed‐Start</scp> Analysis of the <scp>MOXIe</scp> Extension od David R. Lynch, Melanie Chin, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, Angie Goldsberry, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Megan O’Grady, Susan Perlman, S. H. Subramony, George Wilmot, Theresa A. Zesiewicz, Colin J. Meyer

    Izdano 2022
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