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There are 1275 results for: content related to: Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin

  1. You have full text access to this OnlineOpen article
    Ataluren treatment of patients with nonsense mutation dystrophinopathy

    Muscle & Nerve

    Volume 50, Issue 4, October 2014, Pages: 477–487, Katharine Bushby, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P. Comi, Anne M. Connolly, John W. Day, Kevin M. Flanigan, Nathalie Goemans, Kristi J. Jones, Eugenio Mercuri, Ros Quinlivan, James B. Renfroe, Barry Russman, Monique M. Ryan, Mar Tulinius, Thomas Voit, Steven A. Moore, H. Lee Sweeney, Richard T. Abresch, Kim L. Coleman, Michelle Eagle, Julaine Florence, Eduard Gappmaier, Allan M. Glanzman, Erik Henricson, Jay Barth, Gary L. Elfring, Allen Reha, Robert J. Spiegel, Michael W. O'donnell, Stuart W. Peltz, Craig M. Mcdonald and FOR THE PTC124-GD-007-DMD STUDY GROUP

    Article first published online : 22 SEP 2014, DOI: 10.1002/mus.24332

  2. You have full text access to this OnlineOpen article
    Burden, professional support, and social network in families of children and young adults with muscular dystrophies

    Muscle & Nerve

    Accepted manuscript online: 31 OCT 2014, Lorenza Magliano, Melania Patalano, Alessandra Sagliocchi, Marianna Scutifero, Antonella Zaccaro, Maria Grazia D'Angelo, Federica Civati, Erika Brighina, Giuseppe Vita, Gian Luca Vita, Sonia Messina, Maria Sframeli, Marika Pane, Maria Elena Lombardo, Roberta Scalise, Adele D'Amico, Giulia Colia, Michela Catteruccia, Umberto Balottin, Angela Berardinelli, Maria Chiara Motta, Corrado Angelini, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Roberta Battini, Guja Astrea and Luisa Politano

    DOI: 10.1002/mus.24503

  3. Outcome reliability in non ambulatory boys/men with duchenne muscular dystrophy

    Muscle & Nerve

    Accepted manuscript online: 24 JUL 2014, Anne M. Connolly, Elizabeth C. Malkus, Jerry R. Mendell, Kevin M. Flanigan, J Philip Miller, Jeanine R. Schierbecker, Catherine A. Siener, Paul T. Golumbek, Craig M. Zaidman, Craig M. McDonald, Linda Johnson, Alina Nicorici, Peter I. Karachunski, John W. Day, Jason M. Kelecic, Linda P Lowes, Lindsay N. Alfano, Basil T. Darras, Peter B. Kang, Janet Quigley, Amy E. Pasternak, Julaine M. Florence and and MDA DMD Clinical Research Network

    DOI: 10.1002/mus.24346

  4. Peripheral nerve ultrasound in ALS phenotypes

    Muscle & Nerve

    Accepted manuscript online: 25 AUG 2014, Stefanie Schreiber, Susanne Abdulla, Grazyna Debska-Vielhaber, Judith Machts, Verena Dannhardt-Stieger, Helmut Feistner, Andreas Oldag, Michael Goertler, Susanne Petri, Katja Kollewe, Siegfried Kropf, Frank Schreiber, Hans-Jochen Heinze, Reinhard Dengler, Peter J. Nestor and Stefan Vielhaber

    DOI: 10.1002/mus.24431

  5. Myotonic Dystrophy Health Index: Initial evaluation of a disease-specific outcome measure

    Muscle & Nerve

    Volume 49, Issue 6, June 2014, Pages: 906–914, Chad Heatwole, Rita Bode, Nicholas Johnson, Jeanne Dekdebrun, Nuran Dilek, Mark Heatwole, James E. Hilbert, Elizabeth Luebbe, William Martens, Michael P. Mcdermott, Nan Rothrock, Charles Thornton, Barbara G. Vickrey, David Victorson and Richard Moxley III

    Article first published online : 17 MAY 2014, DOI: 10.1002/mus.24097

  6. Contact heat evoked potentials: Normal values and use in small fiber neuropathy

    Muscle & Nerve

    Accepted manuscript online: 26 SEP 2014, Vera Lagerburg, Mayienne Bakkers, Anne Bouwhuis, Janneke G.J. Hoeijmakers, Arjen M. Smit, Sofia J.M van den Berg, Ineke Hordijk-de Boer, Mardien D.G. Brouwer-van der Lee, Douwe Kranendonk, Jos P.H. Reulen, Catharina G. Faber and Ingemar S.J. Merkies

    DOI: 10.1002/mus.24465

  7. Electrical impedance myography correlates with standard measures of Als severity

    Muscle & Nerve

    Volume 49, Issue 3, March 2014, Pages: 441–443, Seward B. Rutkove, James B. Caress, Michael S. Cartwright, Ted M. Burns, Judy Warder, William S. David, Namita Goyal, Nicholas J. Maragakis, Michael Benatar, Khema R. Sharma, Pushpa Narayanaswami, Elizabeth M. Raynor, Mary Lou Watson and Jeremy M. Shefner

    Article first published online : 19 DEC 2013, DOI: 10.1002/mus.24128

  8. You have full text access to this OnlineOpen article
    Chloride channels in myotonia congenita assessed by velocity recovery cycles

    Muscle & Nerve

    Volume 49, Issue 6, June 2014, Pages: 845–857, S. Veronica Tan, Werner J Z'Graggen, DELPHINE Boërio, Dipa Raja Rayan, Fiona Norwood, Deborah Ruddy, R. Howard, Michael G. Hanna and Hugh Bostock

    Article first published online : 2 MAY 2014, DOI: 10.1002/mus.24069

  9. Effect of eccentric versus concentric exercise training on mitochondrial function

    Muscle & Nerve

    Volume 50, Issue 5, November 2014, Pages: 803–811, Marie-Eve Isner-Horobeti, Laurence Rasseneur, Evelyne Lonsdorfer-Wolf, Stéphane Pascal Dufour, Stéphane Doutreleau, Jamal Bouitbir, Joffrey Zoll, Sophia Kapchinsky, Bernard Geny, Frédéric Nicolas Daussin, Yan Burelle and Ruddy Richard

    Article first published online : 30 AUG 2014, DOI: 10.1002/mus.24215

  10. Health-related quality-of-life and treatment targets in myasthenia gravis

    Muscle & Nerve

    Volume 50, Issue 4, October 2014, Pages: 493–500, Kimiaki Utsugisawa, Shigeaki Suzuki, Yuriko Nagane, Masayuki Masuda, Hiroyuki Murai, Tomihiro Imai, Emiko Tsuda, Shingo Konno, Shunya Nakane, Yasushi Suzuki, Kazuo Fujihara and Norihiro Suzuki

    Article first published online : 30 AUG 2014, DOI: 10.1002/mus.24213

  11. F-wave latencies in patients with diabetes mellitus

    Muscle & Nerve

    Volume 49, Issue 6, June 2014, Pages: 804–808, Hua Pan, Fan Jian, Jinxi Lin, Na Chen, Chunfang Zhang, Zaiqiang Zhang, Zeyu Ding, Yongjun Wang, Liying Cui and Jun Kimura

    Article first published online : 27 JAN 2014, DOI: 10.1002/mus.24127

  12. Histological characterization and biochemical analysis of paraspinal muscles in neuromuscularly healthy subjects

    Muscle & Nerve

    Accepted manuscript online: 12 OCT 2014, Claudia Zimmermann, Rajakiran Kalepu, Matthias Ponfick, Heiko Reichel, Balkan Cakir, Stephan Zierz, Hans-Jürgen Gdynia, Jan Kassubek, Albert. C. Ludolph and Angela Rosenbohm

    DOI: 10.1002/mus.24490

  13. Primary multifocal lymphoma of peripheral nervous system: Case report and review of the literature

    Muscle & Nerve

    Volume 50, Issue 6, December 2014, Pages: 1016–1022, Alessandra Del Grande, Mario Sabatelli, Marco Luigetti, Amelia Conte, Giuseppe Granata, Vittoria Rufini, Annemilia Del Ciello, Simona Gaudino, Eduardo Fernandez, Stefan Hohaus, Antonella Coli and Libero Lauriola

    Article first published online : 30 OCT 2014, DOI: 10.1002/mus.24354

  14. Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy

    Muscle & Nerve

    Volume 50, Issue 6, December 2014, Pages: 1011–1016, Claudia Castiglioni, Denis Cassandrini, Fabiana Fattori, Emanuele Bellacchio, Adele D'Amico, Karin Alvarez, Roger Gejman, Jorge Diaz, Filippo M. Santorelli, Norma B. Romero, Enrico Bertini and Jorge A. Bevilacqua

    Article first published online : 30 OCT 2014, DOI: 10.1002/mus.24353

  15. Rasch analysis of clinical outcome measures in spinal muscular atrophy

    Muscle & Nerve

    Volume 49, Issue 3, March 2014, Pages: 422–430, Stefan J. Cano, Anna Mayhew, Allan M. Glanzman, Kristin J. Krosschell, Kathryn J. Swoboda, Marion Main, Birgit F. Steffensen, Carole Bérard, Françoise Girardot, Christine A.M. Payan, Eugenio Mercuri, Elena Mazzone, Bakri Elsheikh, Julaine Florence, Linda S. Hynan, Susan T. Iannaccone, Leslie L. Nelson, Shree Pandya, Michael Rose, Charles Scott, Reza Sadjadi, Mackensie A. Yore, Cynthia Joyce, John T. Kissel and on behalf of the International Coordinating Committee for SMA Clinical Trials Rasch Task Force

    Article first published online : 26 JUL 2013, DOI: 10.1002/mus.23937

  16. Ultrasound evaluation in transthyretin-related amyloid neuropathy

    Muscle & Nerve

    Volume 50, Issue 3, September 2014, Pages: 372–376, Giuseppe Granata, Marco Luigetti, Daniele Coraci, Alessandra Del Grande, Angela Romano, Giulia Bisogni, Placido Bramanti, Paolo Maria Rossini, Mario Sabatelli and Luca Padua

    Article first published online : 16 JUN 2014, DOI: 10.1002/mus.24168

  17. Proficiency of nerve conduction using standard methods and reference values (cl. NPhys Trial 4)

    Muscle & Nerve

    Volume 50, Issue 6, December 2014, Pages: 900–908, William J. Litchy, James W. Albers, James Wolfe, Charles F. Bolton, Nancy Walsh, Christopher J. Klein, Andrew J. Zafft, James W. Russell, Melanie Zwirlein, Carol J. Overland, Jenny L. Davies, Rickey E. Carter, Peter J. Dyck and the CI. Nphys Trial 4 Investigators

    Article first published online : 30 OCT 2014, DOI: 10.1002/mus.24243

  18. Andersen–Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement

    Muscle & Nerve

    Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Piotr Pruszczyk, Katarzyna Bieganowska, Maria Miszczak-Knecht, Piotr Bienias, krzysztof szczałuba, Hsien-Yang Lee, Emily Quinn, Rafal Ploski, Anna Kaminska and Louis J. Ptáček

    Article first published online : 19 NOV 2014, DOI: 10.1002/mus.24293

  19. You have free access to this content
    Rare combination of myasthenia and motor neuronopathy, responsive to Msc-Ntf stem cell therapy

    Muscle & Nerve

    Volume 49, Issue 3, March 2014, Pages: 455–457, Panayiota Petrou, Avizohar Argov, Vanda A. Lennon, Marc Gotkine, Ibrahim Kassis, Adi Vaknin-Dembinsky, Tamir Ben-Hur, Daniel Offen, Oded Abramsky, Eldad Melamed and Dimitrios Karussis

    Article first published online : 20 JAN 2014, DOI: 10.1002/mus.24143

  20. You have full text access to this OnlineOpen article
    Tirasemtiv amplifies skeletal muscle response to nerve activation in humans

    Muscle & Nerve

    Volume 50, Issue 6, December 2014, Pages: 925–931, Richard Hansen, Khalil G. Saikali, Willis Chou, Alan J. Russell, Michael M. Chen, Vipin Vijayakumar, Randall R. Stoltz, Stephane Baudry, Roger M. Enoka, David J. Morgans, Andrew A. Wolff and Fady I. Malik

    Article first published online : 21 NOV 2014, DOI: 10.1002/mus.24239