PMC Links for Nucleotide (Select 1519242030) - PMC

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Items: 11

Select item 57773031.

Lafora disease

Julie Turnbull, Pasquale Striano, Pierre Genton, Stirling Carpenter, Cameron A. Ackerley, Berge A. Minassian

Epileptic Disord. Author manuscript; available in PMC 2018 Jan 22.

Published in final edited form as: Epileptic Disord. 2016 Sep 1; 18(Suppl 2): 38–62. doi: 10.1684/epd.2016.0842

PMCID:: PMC5777303

Article PDF–7.5M

Select item 55781332.

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 17160393.

Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities.

J Sainz, B A Minassian, J M Serratosa, M N Gee, L M Sakamoto, R Iranmanesh, S Bohlega, R J Baumann, S Ryan, R S Sparkes, A V Delgado-Escueta

Am J Hum Genet. 1997 Nov; 61(5): 1205–1209. doi: 10.1086/301596

PMCID:: PMC1716039

Summary Page Browse PDF–813K

Select item 10510024.

Identification of a recombination event narrowing the Lafora disease gene region.

L O Maddox, M Descartes, J Collins, J Keating, S Rosenfeld, C Palmer, A J Carroll, R Kuzniecky

J Med Genet. 1997 Jul; 34(7): 590–591. doi: 10.1136/jmg.34.7.590

PMCID:: PMC1051002

Summary Page Browse PDF–323K

Select item 65888865.

Treatment with metformin in twelve patients with Lafora disease

Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci, Paolo Tinuper

Orphanet J Rare Dis. 2019; 14: 149. Published online 2019 Jun 21. doi: 10.1186/s13023-019-1132-3

PMCID:: PMC6588886

Abstract Article PDF–551K

Select item 62966936.

Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience

Edin BEGIC, Haris BRADARIC, Zijo BEGIC, Amra DOBRACA

Iran J Child Neurol. 2019 Winter; 13(1): 115–120.

PMCID:: PMC6296693

Abstract Article PDF–176K

Select item 44239317.

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G. de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C. M. Sonsma, Bobby P. Koeleman, Dick Lindhout, Yvonne G. Weber, Holger Lerche, Claudia Kapser, Christoph J. Schankin, Wolfram S. Kunz, Rainer Surges, Christian E. Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M. Klein, Felix Rosenow, Bernd A. Neubauer, Eva M. Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S. Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander

PLoS Genet. 2015 May; 11(5): e1005226. Published online 2015 May 7. doi: 10.1371/journal.pgen.1005226

PMCID:: PMC4423931

Abstract Article PDF–348K

Select item 31279568.

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 26920019.

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin

Santiago Vernia, Teresa Rubio, Miguel Heredia, Santiago Rodríguez de Córdoba, Pascual Sanz

PLoS One. 2009; 4(6): e5907. Published online 2009 Jun 16. doi: 10.1371/journal.pone.0005907

PMCID:: PMC2692001

Abstract Article PDF–545K

Select item 265918210.

AMP-activated Protein Kinase Phosphorylates R5/PTG, the Glycogen Targeting Subunit of the R5/PTG-Protein Phosphatase 1 Holoenzyme, and Accelerates Its Down-regulation by the Laforin-Malin Complex

Santiago Vernia, M. Carmen Solaz-Fuster, José Vicente Gimeno-Alcañiz, Teresa Rubio, Luisa García-Haro, Marc Foretz, Santiago Rodríguez de Córdoba, Pascual Sanz

J Biol Chem. 2009 Mar 27; 284(13): 8247–8255. doi: 10.1074/jbc.M808492200

PMCID:: PMC2659182

Abstract Article PDF–614K

Select item 243820411.

Development of a Clinically Feasible Molecular Assay to Predict Recurrence of Stage II Colon Cancer

Yuqiu Jiang, Graham Casey, Ian C. Lavery, Yi Zhang, Dmitri Talantov, Michelle Martin-McGreevy, Marek Skacel, Elena Manilich, Abhijit Mazumder, David Atkins, Conor P. Delaney, Yixin Wang

J Mol Diagn. 2008 Jul; 10(4): 346–354. doi: 10.2353/jmoldx.2008.080011