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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationBOISSE LOMAX, Lysa; BAYLY, Marta A; O'SULLIVAN, John D et al.Brain. 2013, Vol 136, pp 1146-1154, issn 0006-8950, 9 p., 4Article

Altered tryptophan metabolism in the brain of Cystatin B-deficient mice : A model system for progressive myoclonus epilepsyVAARMANN, Annika; KAASIK, Allen; ZHARKOVSKY, Alexander et al.Epilepsia (Copenhagen). 2006, Vol 47, Num 10, pp 1650-1654, issn 0013-9580, 5 p.Article

Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD Is it that simple?ANDRADE, Danielle M; SCHERER, Stephen W; MINASSIAN, Berge A et al.Epilepsy research. 2006, Vol 72, Num 1, pp 75-79, issn 0920-1211, 5 p.Article

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutationsRUBBOLI, Guido; FRANCESCHETTI, Silvana; MICHELUCCI, Roberto et al.Epilepsia (Copenhagen). 2011, Vol 52, Num 12, pp 2356-2363, issn 0013-9580, 8 p.Article

Reduced serotonin and 3-hydroxyanthranilic acid levels in serum of cystatin B-deficient mice, a model system for progressive myoclonus epilepsyARBATOVA, Jelena; D'AMATO, Elena; VAARMANN, Annika et al.Epilepsia (Copenhagen). 2005, Vol 46, pp 49-51, issn 0013-9580, 3 p., SUP5Conference Paper

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