Search Results

There are 4103 results for: content related to: Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase

  1. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

    Annals of Neurology

    Volume 72, Issue 3, September 2012, Pages: 433–441, Fanny Mochel, Raphael Schiffmann, Marjan E. Steenweg, Hasan O. Akman, Mary Wallace, Frédéric Sedel, Pascal Laforêt, Richard Levy, J. Michael Powers, Sophie Demeret, Thierry Maisonobe, Roseline Froissart, Bruno Barcelos Da Nobrega, Brent L. Fogel, Marvin R. Natowicz, Catherine Lubetzki, Alexandra Durr, Alexis Brice, Hanna Rosenmann, Varda Barash, Or Kakhlon, J. Moshe Gomori, Marjo S. van der Knaap and Alexander Lossos

    Version of Record online : 2 OCT 2012, DOI: 10.1002/ana.23598

  2. Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease

    Muscle & Nerve

    Volume 53, Issue 3, March 2016, Pages: 473–475, Larissa V. Furtado, Sabah Kadri, Michelle N. Wurst, Bradley C. Long, Jeremy P. Segal and Peter Pytel

    Version of Record online : 28 JAN 2016, DOI: 10.1002/mus.25017

  3. Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

    Muscle & Nerve

    Volume 37, Issue 4, April 2008, Pages: 530–536, Roberto Massa, Claudio Bruno, Alessandro Martorana, Nicola de Stefano, Otto P. van Diggelen and Antonio Federico

    Version of Record online : 9 NOV 2007, DOI: 10.1002/mus.20916

  4. Adult polyglucosan body disease: The diagnostic value of axilla skin biopsy

    Annals of Neurology

    Volume 29, Issue 4, April 1991, Pages: 448–451, H. L. S. M. Busard, A. A. W. M. Gabreëls-Festen, Dr W. O. Renier, F. J. M. Gabreëls, E. M. G. Joosten, M. A. van't Hof and J. B. M. Rensing

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410290420

  5. Adult polyglucosan body disease presenting as a unilateral progressive plexopathy

    Muscle & Nerve

    Volume 53, Issue 6, June 2016, Pages: 976–981, Elie Naddaf, Charles D. Kassardjian, Yasemin Gulcan Kurt, Hasan Orhan Akman and Anthony J. Windebank

    Version of Record online : 25 APR 2016, DOI: 10.1002/mus.25041

  6. Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration

    Neuropathology and Applied Neurobiology

    Volume 40, Issue 6, October 2014, Pages: 778–782, Esther N. Bit-Ivan, Kyung-Hwa Lee, Darren Gitelman, Sandra Weintraub, Marsel Mesulam, Rosa Rademakers, Adrian M. Isaacs, Kimmo J. Hatanpaa, Charles L. White III, Qinwen Mao, Orhan Akman, Salvatore DiMauro and Eileen H. Bigio

    Version of Record online : 25 SEP 2014, DOI: 10.1111/nan.12144

  7. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen-branching enzyme gene

    Annals of Neurology

    Volume 44, Issue 6, December 1998, Pages: 867–872, Dr. Alexander Lossos, Zeev Meiner, Varda Barash, Dov Soffer, Ilana Schlesinger, Oded Abramsky, Zohar Argov, Shoshi Shpitzen and Vardiella Meiner

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410440604

  8. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients

    Annals of Neurology

    Volume 30, Issue 5, November 1991, Pages: 655–662, Dr. A. Lossos, V. Barash, D. Soffer, Z. Argov, M. Gomori, Z. Ben-Nariah, O. Abramsky and I. Steiner

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410300505

  9. Adult polyglucosan body disease: Case description of an expanding genetic and clinical syndrome

    Muscle & Nerve

    Volume 29, Issue 2, February 2004, Pages: 323–328, Christopher J. Klein, Christopher J. Boes, John E. Chapin, Christopher D. Lynch, Norbert G. Campeau, P. James B. Dyck and Peter J. Dyck

    Version of Record online : 24 NOV 2003, DOI: 10.1002/mus.10520

  10. Distribution and electron microscopical and immunohistochemical aspects of Lafora bodies in a Lafora patient with a 17-year clinical course

    Neuropathology

    Volume 19, Issue 3, September 1999, Pages: 273–282, N Yoshimura, S Kaneko, I Yohimura, K Yamagata, H Ichinohe, C Hagiwara, T Kusumi and H Kudo

    Version of Record online : 7 APR 2005, DOI: 10.1046/j.1440-1789.1999.00239.x

  11. Glycogen branching enzyme deficiency in adult polyglucosan body disease

    Annals of Neurology

    Volume 33, Issue 1, January 1993, Pages: 88–93, Claudio Bruno, Serenella Servidei, Sara Shanske, George Karpati, Stirling Carpenter, David McKee, Richard J. Barohn, Michio Hirano, Ziad Rifai and Dr. Salvatore Dimauro

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410330114

  12. Adult polyglucosan body disease: A case report of a manifesting heterozygote

    Muscle & Nerve

    Volume 32, Issue 5, November 2005, Pages: 675–681, Eroboghene E. Ubogu, Stacey Tay Kiat Hong, Hasan Orhan Akman, Salvatore Dimauro, Bashar Katirji, David C. Preston and Barbara E. Shapiro

    Version of Record online : 8 JUL 2005, DOI: 10.1002/mus.20384

  13. You have free access to this content
    Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells

    The FEBS Journal

    Volume 279, Issue 14, July 2012, Pages: 2467–2478, Li Zeng, Yin Wang, Otto Baba, Pan Zheng, Yang Liu and Yan Liu

    Version of Record online : 8 JUN 2012, DOI: 10.1111/j.1742-4658.2012.08627.x

  14. Childhood-onset spinocerebellar syndrome associated with massive polyglucosan body deposition

    Acta Neurologica Scandinavica

    Volume 95, Issue 1, January 1997, Pages: 60–64, K. J. Felice, M. L. Grunnet, K. R. Rao and L. I. Wolfson

    Version of Record online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1997.tb00070.x

  15. A new muscle glycogen storage disease associated with glycogenin-1 deficiency

    Annals of Neurology

    Volume 76, Issue 6, December 2014, Pages: 891–898, Edoardo Malfatti, Johanna Nilsson, Carola Hedberg-Oldfors, Aurelio Hernandez-Lain, Fabrice Michel, Cristina Dominguez-Gonzalez, Gabriel Viennet, H. Orhan Akman, Cornelia Kornblum, Peter Van den Bergh, Norma B. Romero, Andrew G. Engel, Salvatore DiMauro and Anders Oldfors

    Version of Record online : 31 OCT 2014, DOI: 10.1002/ana.24284

  16. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 536–540, Focke Ziemssen, Eckhart Sindern, J. Michael Schröder, Yoon S. Shin, Jahen Zange, Manfred W. Kilimann, Jean-Pierre Malin and Matthias Vorgerd

    Version of Record online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<536::AID-ANA22>3.0.CO;2-K

  17. Polyglucosan body disease

    Muscle & Nerve

    Volume 14, Issue 2, February 1991, Pages: 102–107, Dr., MD Maureen S. Cafferty, Dr., MD Robert E. Lovelace, Dr., MD Arthur P. Hays, Dr., MD Serenella Servidel, Dr., MD Salvatore Dimauro and Dr., MD Lewis P. Rowland

    Version of Record online : 13 OCT 2004, DOI: 10.1002/mus.880140203

  18. Polyglucosan Molecules Induce Mitochondrial Impairment and Apoptosis in Germ Cells Without Affecting the Integrity and Functionality of Sertoli Cells

    Journal of Cellular Physiology

    Volume 231, Issue 10, October 2016, Pages: 2142–2152, Franz Villarroel-Espíndola, Cynthia Tapia, Roxana González-Stegmaier, Ilona I. Concha and Juan Carlos Slebe

    Version of Record online : 11 FEB 2016, DOI: 10.1002/jcp.25315

  19. Adult polyglucosan body disease: Clinical and nerve biopsy findings in two cases

    Annals of Neurology

    Volume 13, Issue 4, April 1983, Pages: 440–444, Dr A. J. M. Vos, E. M. G. Joosten and A. A. W. M. Gabreëls-Festen

    Version of Record online : 7 OCT 2004, DOI: 10.1002/ana.410130411

  20. Polyglucosan body disease myopathy: An unusual presentation

    Muscle & Nerve

    Volume 35, Issue 4, April 2007, Pages: 536–539, Steve Vucic, Roger Pamphlett, Edward J. Wills and Con Yiannikas

    Version of Record online : 12 JAN 2007, DOI: 10.1002/mus.20720