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Items: 4

1.
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
ArticlePDF–7.5M
2.
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
AbstractArticlePDF–2.7M
3.
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
SummaryPage BrowsePDF–813K
4.
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
SummaryPage BrowsePDF–323K

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