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Nela Pencea

University of Toronto

10

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447

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PTG protein depletion rescues malin‐deficient Lafora disease in mouse

2014 Annals of Neurology
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Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease

2012 Journal of Biological Chemistry
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Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2

2012 American Journal of Medical Genetics
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PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

2011 PLOS Genetics
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Lafora bodies in skeletal muscle are fiber type specific.

2011 Neurology
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The Genetics of a Novel Form of Lafora Disease

2010 Neurology
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