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There are 20997 results for: content related to: Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten

  1. You have full text access to this OnlineOpen article
    Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

    EMBO Molecular Medicine

    Volume 5, Issue 5, May 2013, Pages: 691–706, Carmine Spampanato, Erin Feeney, Lishu Li, Monica Cardone, Jeong-A Lim, Fabio Annunziata, Hossein Zare, Roman Polishchuk, Rosa Puertollano, Giancarlo Parenti, Andrea Ballabio and Nina Raben

    Article first published online : 18 APR 2013, DOI: 10.1002/emmm.201202176

  2. Autophagy in Lysosomal Myopathies

    Brain Pathology

    Volume 22, Issue 1, January 2012, Pages: 82–88, May Christine V. Malicdan and Ichizo Nishino

    Article first published online : 8 DEC 2011, DOI: 10.1111/j.1750-3639.2011.00543.x

  3. Consensus treatment recommendations for late-onset Pompe disease

    Muscle & Nerve

    Volume 45, Issue 3, March 2012, Pages: 319–333, Edward J. Cupler, Kenneth I. Berger, Robert T. Leshner, Gil I. Wolfe, Jay J. Han, Richard J. Barohn, John T. Kissel and of the AANEM CONSENSUS COMMITTEE ON LATE-ONSET POMPE DISEASE

    Article first published online : 15 DEC 2011, DOI: 10.1002/mus.22329

  4. Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 69–79, Laura E. Case, Alexandra A. Beckemeyer and Priya S. Kishnani

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31321

  5. SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france

    Muscle & Nerve

    Volume 51, Issue 6, June 2015, Pages: 884–889, Andoni Echaniz-Laguna, Robert-Yves Carlier, Kenza Laloui, Pierre Carlier, Emmanuelle Salort-Campana, Jean Pouget and Pascal Laforet

    Article first published online : 2 APR 2015, DOI: 10.1002/mus.24653

  6. Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease

    Annals of Neurology

    Volume 78, Issue 2, August 2015, Pages: 222–234, Adrian G. Todd, Jessica A. McElroy, Robert W. Grange, David D. Fuller, Glenn A. Walter, Barry J. Byrne and Darin J. Falk

    Article first published online : 30 JUN 2015, DOI: 10.1002/ana.24433

  7. Sibling phenotype concordance in classical infantile Pompe disease

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 21, 1 November 2007, Pages: 2493–2501, Wendy E. Smith, Jennifer A. Sullivan-Saarela, Jennifer S. Li, Gerald F. Cox, Deyanira Corzo, Yuan-Tsong Chen and Priya S. Kishnani

    Article first published online : 12 SEP 2007, DOI: 10.1002/ajmg.a.31936

  8. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

    American Journal of Medical Genetics

    Volume 72, Issue 2, 17 October 1997, Pages: 135–142, Alain Verloes, Martial Massin, Jacques Lombet, Bettina Grattagliano, Daniel Soyeur, Jacques Rigo, Lucien Koulischer and François Van Hoof

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U

  9. Myocardial glycogen dynamics: New perspectives on disease mechanisms

    Clinical and Experimental Pharmacology and Physiology

    Volume 42, Issue 4, April 2015, Pages: 415–425, Chanchal Chandramouli, Upasna Varma, Ellie M Stevens, Rui-Ping Xiao, David I Stapleton, Kimberley M Mellor and Lea MD Delbridge

    Article first published online : 27 MAR 2015, DOI: 10.1111/1440-1681.12370

  10. You have free access to this content
    New insights into therapeutic options for Pompe disease

    IUBMB Life

    Volume 63, Issue 11, November 2011, Pages: 979–986, Emmanuel Richard, Gaëlle Douillard-Guilloux and Catherine Caillaud

    Article first published online : 14 OCT 2011, DOI: 10.1002/iub.529

  11. Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease

    The Journal of Gene Medicine

    Volume 12, Issue 11, November 2010, Pages: 881–891, Baodong Sun, Songtao Li, Andrew Bird, Haiqing Yi, Alex Kemper, Beth L. Thurberg and Dwight D. Koeberl

    Article first published online : 22 OCT 2010, DOI: 10.1002/jgm.1511

  12. Diagnostic criteria for late-onset (childhood and adult) pompe disease

    Muscle & Nerve

    Volume 40, Issue 1, July 2009, Pages: 149–160,

    Article first published online : 16 JUN 2009, DOI: 10.1002/mus.21393

  13. You have free access to this content
    Autophagy – a fundamental cellular mechanism on the verge of clinical translation

    Neuropathology and Applied Neurobiology

    Volume 41, Issue 5, August 2015, Pages: 598–600, Heinz Jungbluth

    Article first published online : 19 MAY 2015, DOI: 10.1111/nan.12230

  14. You have free access to this content
    The cellular pathology of lysosomal diseases

    The Journal of Pathology

    Volume 226, Issue 2, January 2012, Pages: 241–254, Timothy M Cox and M Begoña Cachón-González

    Article first published online : 1 DEC 2011, DOI: 10.1002/path.3021

  15. You have full text access to this OnlineOpen article
    Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease

    EMBO Molecular Medicine

    Volume 5, Issue 6, June 2013, Pages: 870–890, Ivan Nemazanyy, Bert Blaauw, Cecilia Paolini, Catherine Caillaud, Feliciano Protasi, Amelie Mueller, Tassula Proikas-Cezanne, Ryan C. Russell, Kun-Liang Guan, Ichizo Nishino, Marco Sandri, Mario Pende and Ganna Panasyuk

    Article first published online : 30 APR 2013, DOI: 10.1002/emmm.201202057

  16. The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

    Human Mutation

    Volume 30, Issue 12, December 2009, Pages: 1683–1692, John J. Flanagan, Barbara Rossi, Katherine Tang, Xiaoyang Wu, Kirsten Mascioli, Francesca Donaudy, Maria Rosaria Tuzzi, Federica Fontana, Maria Vittoria Cubellis, Caterina Porto, Elfrida Benjamin, David J. Lockhart, Kenneth J. Valenzano, Generoso Andria, Giancarlo Parenti and Hung V. Do

    Article first published online : 4 SEP 2009, DOI: 10.1002/humu.21121

  17. Pompe disease, the must-not-miss diagnosis: A report of 3 patients

    Muscle & Nerve

    Volume 47, Issue 4, April 2013, Pages: 594–600, Alberto Dubrovsky, Jose Corderi, Theodora Karasarides and Ana Lia Taratuto

    Article first published online : 5 MAR 2013, DOI: 10.1002/mus.23643

  18. Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction

    Muscle & Nerve

    Volume 51, Issue 6, June 2015, Pages: 877–883, Manuela Corti, Barbara K. Smith, Darin J. Falk, Lee Ann Lawson, David D. Fuller, S.H. Subramony, Barry J. Byrne and Evangelos A. Christou

    Article first published online : 24 APR 2015, DOI: 10.1002/mus.24444

  19. The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 1, 15 February 2012, Pages: 1–7, Priya S. Kishnani, Alexandra A. Beckemeyer and Nancy J. Mendelsohn

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31324

  20. Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease

    European Journal of Neurology

    Volume 22, Issue 2, February 2015, Pages: 369–e27, M. Boentert, N. Karabul, S. Wenninger, B. Stubbe-Dräger, E. Mengel, B. Schoser and P. Young

    Article first published online : 4 NOV 2014, DOI: 10.1111/ene.12582