Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Daniel Drachman"'
Autor:
Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Livja Medne, Richard Finkel, Anne M. Connolly, Thomas O. Crawford, Daniel Drachman, Nicolas Wein, Ali A. Habib, Monika A. Krzesniak‐Swinarska, Craig M. Zaidman, James J. Collins, Manu Jokela, Bjarne Udd, John W. Day, Gloria Ortiz‐Guerrero, Jeff Statland, Russell J. Butterfield, Diane M. Dunn, Robert B. Weiss, Kevin M. Flanigan
Publikováno v:
Hum Mutat
Human mutation, vol 43, iss 4
Human mutation, vol 43, iss 4
DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an
Autor:
Camilo Toro, Sandra Donkervoort, Océane Landon-Cardinal, Anthony Behin, Carsten G. Bönnemann, Robert T. Shebert, Pierre R. Fequiere, Bruno Eymard, Katherine Pak, Tanya Stojkovic, Olivier Benveniste, Payam Mohassel, Andrew L. Mammen, Yves Allenbach, Daniel Drachman, Amy Harper, Pascal Laforêt, A. Reghan Foley, Matthew N. Meriggioli, Colleen E. Wahl
Publikováno v:
Neurology® Neuroimmunology & Neuroinflammation
Neurology Neuroimmunology & Neuroinflammation
Neurology Neuroimmunology & Neuroinflammation, 2018, 6, pp.e523. ⟨10.1212/NXI.0000000000000523⟩
Neurology Neuroimmunology & Neuroinflammation
Neurology Neuroimmunology & Neuroinflammation, 2018, 6, pp.e523. ⟨10.1212/NXI.0000000000000523⟩
ObjectiveTo determine the prevalence and clinical features of anti-HMGCR myopathy among patients with presumed limb-girdle muscular dystrophy (LGMD) in whom genetic testing has failed to elucidate causative mutations.MethodsPatients with presumed LGM
Autor:
Gordon Ada, Elaine Alexander, Mark Anderson, Robert Anderson, Grant Anhalt, Jacques Banchereau, Alan Baxter, Richard Boyd, Ware Branch, Robert Brodsky, James Bussel, Stanley Cohen, Antonio Coutinho, Terry Davies, James De Jersey, Barbara Detrick, Daniel Drachman, Marc Feldmann, Dori Germolec, James Goding, Michael Good, Malcolm Greaves, Peter Gregersen, Andrew Grigg, Mark Hedger, Phil Hodgkin, Mark Hogarth, Peter Hollingsworth, Derek Jewell, David Jones, Thomas Kay, Vijay Kuchroo, Michael Lenardo, Peter Lipsky, Mark Mamula, Geoffrey McCaughan, Hugh McDevitt, Ruslan Medzhitov, Stephen Miller, Grant Morahan, Kamal D. Moudgil, Robert Nakamura, Dolores Njoku, Abner Notkins, Klaus Rajewski, Westley Reeves, Morris Reichlin, Peter Roberts-Thomson, Ethan Shevach, Ken Shortman, Lawrence Steinman, Cory Teuscher, Argyrios Theophilopoulos, Tony Tiganis, John Todd, Ban-Hock Toh, George Tsokos, John Vierling, Gabriel Virella, Raivo Uibo, Emil Unanue, Clive Wasserfall, Senga Whittingham, Ian Wicks
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7d134a06b6717bfce4614d0ffd629f3
https://doi.org/10.1016/b978-012595961-2/50001-9
https://doi.org/10.1016/b978-012595961-2/50001-9
Publikováno v:
The British journal of psychiatry : the journal of mental science. 138
SummaryThe prevalence of emotional disorder in a total of 72 patients suffering from myasthenia gravis or from peripheral neuromuscular disorders was assessed, using the General Health Questionnaire and Present State Examination.Approximately half th
Autor:
Daniel Drachman
Publikováno v:
Science. 245:1403-1403