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Select item 107580201.

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

Matthew M. Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S. Kishnani, Rebecca L. Koch

Front Genet. 2023; 14: 1282790. Published online 2023 Dec 18. doi: 10.3389/fgene.2023.1282790

PMCID:: PMC10758020

Abstract Article PDF–724K

Select item 106836432.

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder

Joseph R. Abraham, Frederick M. Allen, John Barnard, Daniela Schlatzer, Marvin R. Natowicz

Front Neurol. 2023; 14: 1261125. Published online 2023 Nov 14. doi: 10.3389/fneur.2023.1261125

PMCID:: PMC10683643

Abstract Article PDF–816K

Select item 91198713.

Characterization of cognitive impairment in adult polyglucosan body disease

Paul Theo Zebhauser, Isabell Cordts, Holger Hengel, Bernhard Haslinger, Paul Lingor, Hasan Orhan Akman, Tobias B. Haack, Marcus Deschauer

J Neurol. 2022; 269(6): 2854–2861. Published online 2022 Jan 8. doi: 10.1007/s00415-022-10960-z

PMCID:: PMC9119871

Abstract Article PDF–1.0M

Select item 71268494.

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease

Linda Dainese, Marie-Lorraine Monin, Sophie Demeret, Guy Brochier, Roseline Froissart, Anne Spraul, Raphael Schiffmann, Danielle Seilhean, Fanny Mochel

Gene. 2013 Feb 25; 515(2): 376–379. Published online 2012 Dec 20. doi: 10.1016/j.gene.2012.12.065

PMCID:: PMC7126849

Abstract Article PDF–1.1M

Select item 57122025.

A novel image-based high throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease

Leonardo J. Solmesky, Netaly Khazanov, Hanoch Senderowitz, Peixiang Wang, Berge A. Minassian, Igor M. Ferreira, Wyatt W. Yue, Alexander Lossos, Miguel Weil, Or Kakhlon

Biochem J. Author manuscript; available in PMC 2017 Dec 2.

Published in final edited form as: Biochem J. 2017 Sep 28; 474(20): 3403–3420. Published online 2017 Sep 28. doi: 10.1042/BCJ20170469

PMCID:: PMC5712202

Abstract Article PDF–1.4M

Select item 43299266.

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings

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, Alexander Lossos

Ann Neurol. Author manuscript; available in PMC 2015 Feb 16.

Published in final edited form as: Ann Neurol. 2012 Sep; 72(3): 433–441. doi: 10.1002/ana.23598

PMCID:: PMC4329926

Abstract Article PDF–1.1M

Select item 34369357.

Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions

Jill G. Farmer, Barbara J. Crain, Brent T. Harris, R. Scott Turner

Neurocase. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Neurocase. 2013 Feb; 19(1): 67–75. Published online 2012 Apr 16. doi: 10.1080/13554794.2011.654217

PMCID:: PMC3436935

Abstract Article PDF–870K

Select item 26280648.

A Case of Adult Polyglucosan Body Disease

Seung-Yeob Lee, Jae-Hyeon Park, Se Hun Kim, Tai-Seung Kim, Won-Joo Kim, Young-Chul Choi

Yonsei Med J. 2007 Aug 31; 48(4): 701–703. Published online 2007 Aug 20. doi: 10.3349/ymj.2007.48.4.701

PMCID:: PMC2628064

Abstract Article PDF–732K

Select item 21703289.

Adult polyglucosan body disease associated with an extrapyramidal syndrome

N Robertson, S Wharton, J Anderson, N Scolding

J Neurol Neurosurg Psychiatry. 1998 Nov; 65(5): 788–790. doi: 10.1136/jnnp.65.5.788

PMCID:: PMC2170328

Summary PDF–104K

Select item 1000052710.

Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders

Jordi Duran

Cells. 2023 Mar; 12(5): 722. Published online 2023 Feb 24. doi: 10.3390/cells12050722

PMCID:: PMC10000527

Abstract Article PDF–2.5M

Select item 999209311.

Abundant co-pathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions, and ageing-related tau astrogliopathy in a family with a GBE1 mutation

Maiko T Uemura, EunRan Suh, John L Robinson, Kurt R Brunden, Murray Grossman, David J Irwin, Virginia M-Y Lee, John Q Trojanowski, Edward B Lee, Vivianna M Van Deerlin

Neuropathol Appl Neurobiol. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: Neuropathol Appl Neurobiol. 2023 Feb; 49(1): e12865. doi: 10.1111/nan.12865

PMCID:: PMC9992093

Abstract Article PDF–2.3M

Select item 961280112.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Silvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, Charlotte R Marchioni, Jennifer P Y Lee, Brandon H Smith, Saija Ahonen, Jun Wu, Erin E Chown, Peixiang Wang, Sara Petković, Xiaochu Zhao, Laura F DiGiovanni, Ami M Perri, Lori Israelian, Tamar R Grossman, Holly Kordasiewicz, Francisco Vilaplana, Kazuhiro Iwai, Felix Nitschke, Berge A Minassian

Brain. 2022 Jul; 145(7): 2361–2377. Published online 2022 Jan 27. doi: 10.1093/brain/awac017

PMCID:: PMC9612801

Abstract Article PDF–2.9M

Select item 929409413.

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Emrah Gumusgoz, Sahba Kasiri, Dikran R. Guisso, Jun Wu, Matthew Dear, Brandy Verhalen, Berge A. Minassian

Neurotherapeutics. 2022 Apr; 19(3): 982–993. Published online 2022 Mar 28. doi: 10.1007/s13311-022-01218-7

PMCID:: PMC9294094

Abstract Article PDF–15M

Select item 852244514.

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Christopher Grunseich, Nathan Sarkar, Joyce Lu, Mallory Owen, Alice Schindler, Peter A Calabresi, Charlotte J Sumner, Ricardo H Roda, Vinay Chaudhry, Thomas E Lloyd, Thomas O Crawford, S H Subramony, Shin J Oh, Perry Richardson, Kurenai Tanji, Justin Y Kwan, Kenneth H Fischbeck, Ami Mankodi

J Neurol Neurosurg Psychiatry. 2021 Nov; 92(11): 1186–1196. Published online 2021 Jun 8. doi: 10.1136/jnnp-2020-325437

PMCID:: PMC8522445

Abstract Article PDF–7.1M

Select item 766425415.

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian

Ann Clin Transl Neurol. 2020 Nov; 7(11): 2186–2198. Published online 2020 Oct 9. doi: 10.1002/acn3.51211

PMCID:: PMC7664254

Abstract Article PDF–4.6M

Select item 653060016.

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke

Cell Rep. Author manuscript; available in PMC 2019 May 22.

Published in final edited form as: Cell Rep. 2019 Apr 30; 27(5): 1334–1344.e6. doi: 10.1016/j.celrep.2019.04.017

PMCID:: PMC6530600

Abstract Article PDF–2.2M

Select item 614832317.

Branching Enzyme Deficiency: Expanding the Clinical Spectrum

Carmen Paradas, Hasan O. Akman, Carolina Ionete, Heather Lau, Peter N. Riskind, David E. Jones, Thomas W. Smith, Michio Hirano, Salvatore DiMauro

JAMA Neurol. Author manuscript; available in PMC 2018 Sep 21.

Published in final edited form as: JAMA Neurol. 2014 Jan; 71(1): 41–47. doi: 10.1001/jamaneurol.2013.4888

PMCID:: PMC6148323

Abstract Article PDF–1.3M

Select item 553828218.

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy

Rafael Alvarez, Jesús Casas, David J. López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V. Escribá

J Lipid Res. 2017 Aug; 58(8): 1598–1612. Published online 2017 Jun 19. doi: 10.1194/jlr.M075531

PMCID:: PMC5538282

Abstract Article PDF–2.1M

Select item 458159919.

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

D. Sean Froese, Amit Michaeli, Thomas J. McCorvie, Tobias Krojer, Meitav Sasi, Esther Melaev, Amiram Goldblum, Maria Zatsepin, Alexander Lossos, Rafael Álvarez, Pablo V. Escribá, Berge A. Minassian, Frank von Delft, Or Kakhlon, Wyatt W. Yue

Hum Mol Genet. 2015 Oct 15; 24(20): 5667–5676. Published online 2015 Jul 21. doi: 10.1093/hmg/ddv280

PMCID:: PMC4581599

Abstract Article PDF–1.1M

Select item 323587820.

Progress and problems in muscle glycogenoses

S. DiMauro, R. Spiegel

Acta Myol. 2011 Oct; 30(2): 96–102.

PMCID:: PMC3235878

Abstract Article PDF–161K

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