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There are 19817 results for: content related to: Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten

  1. You have free access to this content
    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

  2. Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease

    Annals of Neurology

    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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. The genotype–phenotype correlation in Pompe disease

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 59–68, Marian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg and Arnold J.J. Reuser

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31318

  11. 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

  12. The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 30–39, Emanuela Lacaná, Lynne P. Yao, Anne R. Pariser and Amy S. Rosenberg

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31316

  13. Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice

    Plant Biotechnology Journal

    Jin Su, Alexandra Sherman, Phillip A. Doerfler, Barry J. Byrne, Roland W. Herzog and Henry Daniell

    Article first published online : 5 JUN 2015, DOI: 10.1111/pbi.12413

  14. 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

  15. 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

  16. Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 50–58, Sarah P. Young, Monique Piraud, Jennifer L. Goldstein, Haoyue Zhang, Catherine Rehder, Pascal Laforet, Priya S. Kishnani, David S. Millington, Mustafa R. Bashir and Deeksha S. Bali

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31320

  17. Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression

    The Journal of Gene Medicine

    Volume 11, Issue 10, October 2009, Pages: 913–920, Baodong Sun, Haoyue Zhang, Andrew Bird, Songtao Li, Sarah P. Young and Dwight D. Koeberl

    Article first published online : 20 JUL 2009, DOI: 10.1002/jgm.1372

  18. You have free access to this content
    Timing of diagnosis of patients with pompe disease: Data from the pompe registry

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2431–2443, Priya S. Kishnani, Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson, Joan Keutzer and on behalf of the Pompe Registry Boards of Advisors

    Article first published online : 30 AUG 2013, DOI: 10.1002/ajmg.a.36110

  19. 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

  20. Ventricular Fibrillation in a Patient with Pompe Disease: A Cautionary Tale

    Congenital Heart Disease

    Volume 6, Issue 4, July/August 2011, Pages: 397–401, Holly C. DeSena, Michael R. Brumund, Duane Superneau and Christopher S. Snyder

    Article first published online : 10 MAR 2011, DOI: 10.1111/j.1747-0803.2010.00471.x