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Items: 1 to 20 of 32

1.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE.

Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.

2.

Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1.

Okuneva O, Körber I, Li Z, Tian L, Joensuu T, Kopra O, Lehesjoki AE.

Glia. 2015 Mar;63(3):400-11. doi: 10.1002/glia.22760. Epub 2014 Oct 18.

PMID:
25327891
3.

Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.

Joensuu T, Tegelberg S, Reinmaa E, Segerstråle M, Hakala P, Pehkonen H, Korpi ER, Tyynelä J, Taira T, Hovatta I, Kopra O, Lehesjoki AE.

PLoS One. 2014 Feb 27;9(2):e89321. doi: 10.1371/journal.pone.0089321. eCollection 2014 Feb 27.

4.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF.

Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28.

PMID:
23449775
5.

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

Canafoglia L, Gennaro E, Capovilla G, Gobbi G, Boni A, Beccaria F, Viri M, Michelucci R, Agazzi P, Assereto S, Coviello DA, Di Stefano M, Rossi Sebastiano D, Franceschetti S, Zara F.

Epilepsia. 2012 Dec;53(12):2120-7. doi: 10.1111/j.1528-1167.2012.03718.x. Erratum in: Epilepsia. 2013 Jul;54(7):1333.

6.

Loss of cortical GABA terminals in Unverricht-Lundborg disease.

Buzzi A, Chikhladze M, Falcicchia C, Paradiso B, Lanza G, Soukupova M, Marti M, Morari M, Franceschetti S, Simonato M.

Neurobiol Dis. 2012 Aug;47(2):216-24. doi: 10.1016/j.nbd.2012.04.005. Epub 2012 Apr 17.

PMID:
22538221
7.

Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.

Tegelberg S, Kopra O, Joensuu T, Cooper JD, Lehesjoki AE.

J Neuropathol Exp Neurol. 2012 Jan;71(1):40-53. doi: 10.1097/NEN.0b013e31823e68e1.

PMID:
22157618
8.

Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

Pinto E, Freitas J, Duarte AJ, Ribeiro I, Ribeiro D, Lima JL, Chaves J, Amaral O.

Epilepsy Res. 2012 Mar;99(1-2):187-90. doi: 10.1016/j.eplepsyres.2011.11.004. Epub 2011 Dec 10.

PMID:
22154554
9.

Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

Koskenkorva P, Hyppönen J, Aikiä M, Mervaala E, Kiviranta T, Eriksson K, Lehesjoki AE, Vanninen R, Kälviäinen R.

Neurodegener Dis. 2011;8(6):515-22. doi: 10.1159/000323470. Epub 2011 Jul 15.

PMID:
21757863
10.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5.

11.

Stefin B interacts with histones and cathepsin L in the nucleus.

Ceru S, Konjar S, Maher K, Repnik U, Krizaj I, Bencina M, Renko M, Nepveu A, Zerovnik E, Turk B, Kopitar-Jerala N.

J Biol Chem. 2010 Mar 26;285(13):10078-86. doi: 10.1074/jbc.M109.034793. Epub 2010 Jan 14.

12.

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.

Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, Kopra O, Joensuu T, Hakala P, Bonni A, Lehesjoki AE.

J Neurosci. 2009 May 6;29(18):5910-5. doi: 10.1523/JNEUROSCI.0682-09.2009.

13.

Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1).

Danner N, Julkunen P, Khyuppenen J, Hukkanen T, Könönen M, Säisänen L, Koskenkorva P, Vanninen R, Lehesjoki AE, Kälviäinen R, Mervaala E.

Epilepsy Res. 2009 Jul;85(1):81-8. doi: 10.1016/j.eplepsyres.2009.02.015. Epub 2009 Mar 24.

PMID:
19321308
14.

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI.

Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30.

15.

Clinical picture of EPM1-Unverricht-Lundborg disease.

Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E.

Epilepsia. 2008 Apr;49(4):549-56. doi: 10.1111/j.1528-1167.2008.01546.x. Epub 2008 Mar 5. Review.

16.

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M.

Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28.

17.

Molecular background of EPM1-Unverricht-Lundborg disease.

Joensuu T, Lehesjoki AE, Kopra O.

Epilepsia. 2008 Apr;49(4):557-63. Epub 2007 Nov 19. Review.

18.

A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression.

Franceschetti S, Sancini G, Buzzi A, Zucchini S, Paradiso B, Magnaghi G, Frassoni C, Chikhladze M, Avanzini G, Simonato M.

Neurobiol Dis. 2007 Mar;25(3):675-85. Epub 2006 Dec 22.

PMID:
17188503
19.

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.

Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE.

Eur J Hum Genet. 2007 Feb;15(2):185-93. Epub 2006 Sep 27.

20.

Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients.

Magaudda A, Ferlazzo E, Nguyen VH, Genton P.

Epilepsia. 2006 May;47(5):860-6.

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