Zobrazeno 1 - 10
of 197
pro vyhledávání: '"Richard T. Moxley"'
Autor:
Cecilia Higgs, James E. Hilbert, Libby Wood, William B. Martens, Chiara Marini-Bettolo, Nikoletta Nikolenko, Rotana Alsaggaf, Hanns Lochmüller, Richard T. Moxley, Mark H. Greene, Youjin Wang, Shahinaz M. Gadalla
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Introduction: Recent evidence demonstrates that women with myotonic dystrophy type 1 are at increased risk of reproductive organ tumors. However, studies of reproductive cancer risk factors in those patients are lacking.Methods: Using questionnaires,
Externí odkaz:
https://doaj.org/article/016292eb1f6548edb64a433020606367
Autor:
Johanna I. Hamel, Michael P. McDermott, James E. Hilbert, William B. Martens, Elizabeth Luebbe, Rabi Tawil, Richard T. Moxley, Charles A. Thornton
Publikováno v:
Muscle & Nerve. 66:508-512
Disease progression in myotonic dystrophy (DM) is marked by milestone events when functional thresholds are crossed. DM type 2 (DM2) is considered less severe than DM type 1 (DM1), but it is unknown whether this applies uniformly to all features. We
Autor:
Gayle K, Deutsch, Katharine A, Hagerman, Jacinda, Sampson, Gersham, Dent, Jeanne, Dekdebrun, Dana M, Parker, Charles A, Thornton, Chad R, Heatwole, Sub H, Subramony, Ami K, Mankodi, Tetsuo, Ashizawa, Jeffrey M, Statland, W David, Arnold, Richard T, Moxley, John W, Day
Publikováno v:
Muscle Nerve
Myotonic dystrophy type 1 (DM1) is known to affect cognitive function, but the best methods to assess central nervous system involvement in multicenter studies have not been determined. In this study our primary aim was to evaluate the potential of c
Autor:
Wojciech Zareba, Jeanne Dekdebrun, Nicholas E. Johnson, James E. Hilbert, Christopher A. Beck, Araya Puwanant, William B. Martens, Charles A. Thornton, Michael P. McDermott, Chad Heatwole, Katy Eichinger, Richard T. Moxley, Elizabeth Luebbe, Christine Zizzi, Spencer Rosero, Nuran Dilek, Giovanni Schifitto, Rabi Tawil, J. Franklin Richeson
Publikováno v:
Neurology
ObjectiveTo assess mexiletine's long-term safety and effect on 6-minute walk distance in a well-defined cohort of patients with myotonic dystrophy type 1 (DM1).MethodsWe performed a randomized, double-blind, placebo-controlled trial of mexiletine (15
Autor:
Richard T. Moxley, Nicholas E. Johnson, Heather R. Adams, Elizabeth Luebbe, Anne-Berit Ekström, Craig Campbell, Man Hung, Michael Hunter, Kameron Bates, Jerry Bounsanga, Chad Heatwole
Publikováno v:
Paediatrics Publications
Introduction The prevalence and impact of symptoms affecting individuals with pediatric forms of myotonic dystrophy type-1 (DM1) are not well understood. Methods Patients from the United States, Canada, and Sweden completed a survey that investigated
Autor:
Benedikt Schoser, B. Udd, R. Krahe, Giovanni Meola, Josep Gamez, Barbara Fossati, James E. Hilbert, Anne Kostera-Pruszczyk, Charles A. Thornton, Richard T. Moxley, Paul Formaker, Guillaume Bassez, Chad Heatwole, Cornelia Kornblum, Federica Montagnese, Anna Lusakowska
Publikováno v:
Neurology: Clinical Practice
Neurology: Clinical Practice, 2019, 9 (4), pp.343-353. ⟨10.1212/CPJ.0000000000000645⟩
Neurology: Clinical Practice, 2019, 9 (4), pp.343-353. ⟨10.1212/CPJ.0000000000000645⟩
Purpose of reviewMyotonic dystrophy type 2 (DM2) is a rare, progressive multisystem disease particularly affecting the skeletal muscle. A causal therapy is not yet available; however, prompt, appropriate symptomatic treatments are essential to limit
Autor:
Bekir B. Artukoglu, Robert M. Bachoo, Sergio E. Baranzini, Merrill D. Benson, Kevin Biglan, Iona Blakeney, Michael H. Bloch, Melanie Brady, John F. Brandsema, Aldobrando Broccolini, Robert H. Brown, Bernard Cohen, Jordan J. Cole, Anne M. Comi, John C. Crabbe, Basil T. Darras, Michael M. Dowling, Walter Dunn, Orna Elroy-Stein, Bakri H. Elsheikh, Andrew G. Engel, Stanley Fahn, Liana Fasching, Scott C. Fears, Ryan J. Felling, Rosalie E. Ferner, John K. Fink, Charles F. Gillespie, Alica M. Goldman, Jill Goldman, David H. Gutmann, Matti Haltia, Stephen L. Hauser, James E. Hilbert, Othon Iliopoulos, Monica P. Islam, Aaron K. Jenkins, Xiaoming Jia, Heinz Jungbluth, Saima N. Kayani, Pravin Khemani, Fenella J. Kirkham, A. Yasmine Kirkorian, John T. Kissel, Christine Klein, Kleopas A. Kleopa, Stephen J. Kolb, Eumorphia Konstantakou, Doris Lambracht-Washington, Jessica B. Lennington, David A. Lewis, Wen-Chen Liang, Paven A. Lidstone, Katja Lohmann, Paul J. Lombroso, Elizabeth A. Maher, Frederick Marshall, Meghan McCann, Andrew McGarry, Giovanni Meola, Ana Metelo, Bruce L. Miller, Massimiliano Mirabella, Shuki Mizutani, Sara E. Mole, Richard T. Moxley, Francesco Muntoni, Charles B. Nemeroff, Ichizo Nishino, Jeffrey L. Noebels, Massimo Pandolfo, Jonathan Pevsner, Louis Ptáček, Jeffrey Ralph, William Renthal, Victor I. Reus, E. Steve Roach, Roger N. Rosenberg, Antonia M. Savarese, Russell P. Sawyer, Steven S. Scherer, Raphael Schiffmann, Angela Schulz, Caroline Sewry, Vikram G. Shakkottai, Shunichiro Shinagawa, Pratibha Singh, Jemeen Sreedharan, Jeffrey M. Statland, Steven T. Szabo, Gabor Szuhay, Bjarne Udd, Flora M. Vaccarino, David W. Volk, Kathleen S. Wilson, Weiming Xia, Gang Yu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fab7772472d311efef0c7c0bfa295e7
https://doi.org/10.1016/b978-0-12-813866-3.00051-5
https://doi.org/10.1016/b978-0-12-813866-3.00051-5
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are nucleotide repeat expansion disorders, dominantly inherited, and the most common form of adult muscular dystrophy. Clinical manifestations are quite variable in onset and severity and may include m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec12414b0410d4d607d97a82b01da6bb
https://doi.org/10.1016/b978-0-12-813866-3.00029-1
https://doi.org/10.1016/b978-0-12-813866-3.00029-1
Autor:
James E. Hilbert, PS Rosenberg, Libby Wood, Richard T. Moxley, Hanns Lochmüller, Chiara Marini-Bettolo, Shahinaz M. Gadalla, AF Best, Nikoletta Nikolenko, William B. Martens, Mark H. Greene
Publikováno v:
European Journal of Neurology. 26:58-65
BACKGROUND AND PURPOSE Research indicates that patients with myotonic dystrophy type 1 (DM1) are at increased risk of cancer and early death. Family data may provide insights given DM1 phenotypic heterogeneity, the broad range of non-muscular manifes
Autor:
Christina Westfield, Shree Pandya, Emma Ciafaloni, Katherine A. James, Deborah J. Fox, Richard T. Moxley, Shiny Thomas
Publikováno v:
Muscle & Nerve. 58:219-223
Introduction As the Duchenne muscular dystrophy (DMD) population ages, it is essential that we understand the late-stage health profile and provide the appropriate care for this emerging population. Methods We undertook a descriptive study to documen