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Select item 17355781.

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

E Chan, D Bulman, A Paterson, J Turnbull, E Andermann, F Andermann, G Rouleau, A Delgado-Escueta, S Scherer, B Minassian

J Med Genet. 2003 Sep; 40(9): 671–675. doi: 10.1136/jmg.40.9.671

PMCID:: PMC1735578

Summary PDF–822K

Select item 81664622.

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

Antonella Riva, Alessandro Orsini, Marcello Scala, Vittoria Taramasso, Laura Canafoglia, Giuseppe d’Orsi, Maria Teresa Di Claudio, Carlo Avolio, Alfredo D’Aniello, Maurizio Elia, Silvana Franceschetti, Giancarlo Di Gennaro, Francesca Bisulli, Paolo Tinuper, Maria Tappatà, Antonino Romeo, Elena Freri, Carla Marini, Cinzia Costa, Vito Sofia, Edoardo Ferlazzo, Adriana Magaudda, Pierangelo Veggiotti, Elena Gennaro, Angela Pistorio, Carlo Minetti, Amedeo Bianchi, Salvatore Striano, Roberto Michelucci, Federico Zara, Berge Arakel Minassian, Pasquale Striano

J Neurol Sci. Author manuscript; available in PMC 2022 May 15.

Published in final edited form as: J Neurol Sci. 2021 May 15; 424: 117409. Published online 2021 Mar 20. doi: 10.1016/j.jns.2021.117409

PMCID:: PMC8166462

Abstract Article PDF–516K

Select item 65306003.

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 81547204.

The 6^th International Lafora Epilepsy Workshop: advances in the search for a cure.

Kia H. Markussen, Jessica K. A. Macedo, María Machío, Alison Dolce, Y. Paul Goldberg, Craig W. Vander Kooi, Matthew S. Gentry

Epilepsy Behav. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Epilepsy Behav. 2021 Jun; 119: 107975. Published online 2021 May 1. doi: 10.1016/j.yebeh.2021.107975

PMCID:: PMC8154720

Abstract Article PDF–241K

Select item 80947105.

22‐YEAR‐OLD GIRL WITH STATUS EPILEPTICUS AND PROGRESSIVE NEUROLOGICAL SYMPTOMS

Pasquale Striano, Cameron A. Ackerley, Mariarosaria Cervasio, Jean‐Marie Girard, Julie Turnbull, Maria Laura Del Basso‐De Caro, Salvatore Striano, Federico Zara, Berge A. Minassian

Brain Pathol. 2009 Oct; 19(4): 727–730. Published online 2009 Sep 4. doi: 10.1111/j.1750-3639.2009.00308.x

PMCID:: PMC8094710

Article PDF–836K

Select item 70247386.

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Matthew S. Gentry, Zaid Afawi, Dustin D. Armstrong, Antonio Delgado-Escueta, Y. Paul Goldberg, Tamar R. Grossman, Joan J. Guinovart, Frank Harris, Thomas D. Hurley, Roberto Michelucci, Berge A. Minassian, Pascual Sanz, Carolyn A. Worby, Jose M. Serratosa

Epilepsy Behav. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Epilepsy Behav. 2020 Feb; 103(Pt A): 106839. Published online 2020 Jan 10. doi: 10.1016/j.yebeh.2019.106839

PMCID:: PMC7024738

Abstract Article PDF–443K

Select item 69373997.

Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease

Pablo Sanchez-Martin, Marcos Lahuerta, Rosa Viana, Erwin Knecht, Pascual Sanz

Biochim Biophys Acta Mol Cell Res. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Biochim Biophys Acta Mol Cell Res. 2020 Feb; 1867(2): 118613. Published online 2019 Nov 21. doi: 10.1016/j.bbamcr.2019.118613

PMCID:: PMC6937399

Abstract Article PDF–2.3M

Select item 68349098.

Nuclear Glycogenolysis Modulates Histone Acetylation in Human Non-Small Cell Lung Cancers

Ramon C. Sun, Vikas V. Dukhande, Zhengqiu Zhou, Lyndsay E.A. Young, Shane Emanuelle, Christine Fillmore Brainson, Matthew S. Gentry

Cell Metab. Author manuscript; available in PMC 2020 Nov 5.

Published in final edited form as: Cell Metab. 2019 Nov 5; 30(5): 903–916.e7. Published online 2019 Sep 12. doi: 10.1016/j.cmet.2019.08.014

PMCID:: PMC6834909

Abstract Article PDF–1.8M

Select item 67486249.

Lafora Disease: A Review of Molecular Mechanisms and Pathology

Brandy Verhalen, Susan Arnold, Berge A. Minassian

Neuropediatrics. Author manuscript; available in PMC 2019 Sep 17.

Published in final edited form as: Neuropediatrics. 2018 Dec; 49(6): 357–362. Published online 2018 Oct 18. doi: 10.1055/s-0038-1675238

PMCID:: PMC6748624

Abstract Article PDF–1.2M

Select item 653160510.

Lafora disease: a review of the literature

Lorena Desdentado, Raúl Espert, Pascual Sanz, y Javier Tirapu-Ustárroz

Rev Neurol. Author manuscript; available in PMC 2019 May 23.

Published in final edited form as: Rev Neurol. 2019 Jan 16; 68(2): 66–74.

PMCID:: PMC6531605

Abstract Article PDF–499K

Select item 608748911.

A novel EPM2A mutation yields a slow progression form of Lafora disease

Maria Adelaida Garcia-Gimeno, Pilar Natalia Rodilla-Ramirez, Rosa Viana, Xavier Salas-Puig, M. Kathryn Brewer, Matthew S. Gentry, Pascual Sanz

Epilepsy Res. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Epilepsy Res. 2018 Sep; 145: 169–177. Published online 2018 Jul 21. doi: 10.1016/j.eplepsyres.2018.07.003

PMCID:: PMC6087489

Abstract Article PDF–751K

Select item 557813312.

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan

Mitchell A. Sullivan, Silvia Nitschke, Martin Steup, Berge A. Minassian, Felix Nitschke

Int J Mol Sci. 2017 Aug; 18(8): 1743. Published online 2017 Aug 11. doi: 10.3390/ijms18081743

PMCID:: PMC5578133

Abstract Article PDF–2.7M

Select item 554039513.

Lafora disease in miniature Wirehaired Dachshunds

Lindsay Swain, Gill Key, Anna Tauro, Saija Ahonen, Peixiang Wang, Cameron Ackerley, Berge A. Minassian, Clare Rusbridge

PLoS One. 2017; 12(8): e0182024. Published online 2017 Aug 2. doi: 10.1371/journal.pone.0182024

PMCID:: PMC5540395

Abstract Article PDF–9.4M

Select item 411027314.

Protein Degradation and Quality Control in Cells from Laforin and Malin Knockout Mice

Punitee Garyali, Dyann M. Segvich, Anna A. DePaoli-Roach, Peter J. Roach

J Biol Chem. 2014 Jul 25; 289(30): 20606–20614. Published online 2014 Jun 9. doi: 10.1074/jbc.M114.580167

PMCID:: PMC4110273

Abstract Article PDF–1.1M

Select item 343702915.

Early-onset Lafora body disease

Julie Turnbull, Jean-Marie Girard, Hannes Lohi, Elayne M. Chan, Peixiang Wang, Erica Tiberia, Salah Omer, Mushtaq Ahmed, Christopher Bennett, Aruna Chakrabarty, Atul Tyagi, Yan Liu, Nela Pencea, XiaoChu Zhao, Stephen W. Scherer, Cameron A. Ackerley, Berge A. Minassian

Brain. 2012 Sep; 135(9): 2684–2698. Published online 2012 Aug 29. doi: 10.1093/brain/aws205

PMCID:: PMC3437029

Abstract Article PDF–1.4M

Select item 340816916.

Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease

Erica Tiberia, Julie Turnbull, Tony Wang, Alessandra Ruggieri, Xiao-Chu Zhao, Nela Pencea, Johan Israelian, Yin Wang, Cameron A. Ackerley, Peixiang Wang, Yan Liu, Berge A. Minassian

J Biol Chem. 2012 Jul 20; 287(30): 25650–25659. Published online 2012 Jun 5. doi: 10.1074/jbc.M111.331611

PMCID:: PMC3408169

Abstract Article PDF–3.0M

Select item 329828317.

Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity

Anna A. DePaoli-Roach, Dyann M. Segvich, Catalina M. Meyer, Yasmeen Rahimi, Carolyn A. Worby, Matthew S. Gentry, Peter J. Roach

Hum Mol Genet. 2012 Apr 1; 21(7): 1604–1610. Published online 2011 Dec 20. doi: 10.1093/hmg/ddr598

PMCID:: PMC3298283

Abstract Article PDF–269K

Select item 315428418.

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

Philippe Couarch, Santiago Vernia, Isabelle Gourfinkel-An, Gaëtan Lesca, Svetlana Gataullina, Estelle Fedirko, Oriane Trouillard, Christel Depienne, Olivier Dulac, Dominique Steschenko, Eric Leguern, Pascual Sanz, Stéphanie Baulac

J Mol Med (Berl) 2011; 89(9): 915–925. Published online 2011 Apr 20. doi: 10.1007/s00109-011-0758-y

PMCID:: PMC3154284

Abstract Article PDF–624K

Select item 312795619.

A PTG Variant Contributes to a Milder Phenotype in Lafora Disease

Rosa Guerrero, Santiago Vernia, Raúl Sanz, Irene Abreu-Rodríguez, Carmen Almaraz, María García-Hoyos, Roberto Michelucci, Carlo Alberto Tassinari, Patrizia Riguzzi, Carlo Nobile, Pascual Sanz, José M. Serratosa, Pilar Gómez-Garre

PLoS One. 2011; 6(6): e21294. Published online 2011 Jun 30. doi: 10.1371/journal.pone.0021294

PMCID:: PMC3127956

Abstract Article PDF–1.2M

Select item 291910020.

Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin

Anna A. DePaoli-Roach, Vincent S. Tagliabracci, Dyann M. Segvich, Catalina M. Meyer, Jose M. Irimia, Peter J. Roach

J Biol Chem. 2010 Aug 13; 285(33): 25372–25381. Published online 2010 Jun 10. doi: 10.1074/jbc.M110.148668

PMCID:: PMC2919100

Abstract Article PDF–2.7M

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