検索結果 - Nicholas E. Johnson

Myopathy in the York Platelet Syndrome: An Underrecognized Complication 著者: Joy Roman, Michael I. Palmer, Cheryl A. Palmer, Nicholas E. Johnson, Russell J. Butterfield

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High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis 著者: Russell J. Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas E. Johnson, Robert B. Weiss

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Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study 著者: 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

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RNA mis‐splicing in children with congenital myotonic dystrophy is associated with physical function 著者: Julia M. Hartman, Kobe Ikegami, Marina Provenzano, Kameron Bates, Amanda Butler, Aileen S. Jones, Kiera N. Berggren, Jeanne Dekdebrun, Marnee J. McKay, Jennifer N. Baldwin, Kayla M. D. Cornett, Joshua Burns, Michael Kiefer, Nicholas E. Johnson, Melissa A. Hale, the DMCRN Consortium

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The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1 著者: Marina Provenzano, Kobe Ikegami, Kameron Bates, Alison Gaynor, Julia M. Hartman, Aileen Jones, Amanda Butler, Kiera N. Berggren, Jeanne Dekdebrun, Man Hung, Dana M. Lapato, Michael Kiefer, Charles A. Thornton, Nicholas E. Johnson, Melissa A. Hale, on behalf of the Myotonic Dystrophy Clinical Research Network (DMCRN)

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Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study 著者: Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium

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Prospective observational study of FKRP‐related limb‐girdle muscular dystrophy R9: A GRASP consortium study 著者: Lindsay N. Alfano, Meredith K. James, Kristine Grosfjeld Petersen, Karen Rudolf, John Vissing, Renee Augsburger, Tahseen Mozaffar, Aileen Jones, Amanda Butler, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Linda P. Lowes, Talia Strahler, Matthew Wicklund, Stephanie Hunn, Conrad C. Weihl, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Nikia Stinson, Megan Holzer, Doris G. Leung, Donovan J. Lott, Peter B. Kang, Scott Holsten, Urvi Desai, Nicholas E. Johnson, the GRASP‐LGMD Consortium

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