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Items: 1 to 20 of 32

1.

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF.

Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765.

PMID:
19847901
2.

Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study.

Koskenkorva P, Khyuppenen J, Niskanen E, Könönen M, Bendel P, Mervaala E, Lehesjoki AE, Kälviäinen R, Vanninen R.

Neurology. 2009 Aug 25;73(8):606-11. doi: 10.1212/WNL.0b013e3181b3888b.

PMID:
19704079
3.

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.

4.

Neuronal ceroid lipofuscinoses.

Jalanko A, Braulke T.

Biochim Biophys Acta. 2009 Apr;1793(4):697-709. doi: 10.1016/j.bbamcr.2008.11.004. Epub 2008 Nov 24. Review.

5.

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.

6.

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.

7.

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.

8.

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE.

Am J Hum Genet. 2007 Jul;81(1):136-46. Epub 2007 May 14.

9.

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
10.

Long-term evolution of EEG in Unverricht-Lundborg disease.

Ferlazzo E, Magaudda A, Striano P, Vi-Hong N, Serra S, Genton P.

Epilepsy Res. 2007 Mar;73(3):219-27. Epub 2006 Dec 8.

PMID:
17158032
11.

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.

12.

Molecular genetics of the NCLs -- status and perspectives.

Siintola E, Lehesjoki AE, Mole SE.

Biochim Biophys Acta. 2006 Oct;1762(10):857-64. Epub 2006 May 27. Review.

13.

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J.

Brain. 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2.

PMID:
16670177
14.

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE.

Eur J Hum Genet. 2005 Feb;13(2):208-15. Erratum in: Eur J Hum Genet. 2005 Feb;13(2):264.

15.

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschütter A, Lin S, Boustany RM.

Ann Neurol. 2004 Sep;56(3):342-50.

PMID:
15349861
16.

Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1).

Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM.

J Neurobiol. 2003 Sep 15;56(4):315-27.

17.

Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease.

Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM.

J Neuropathol Exp Neurol. 2002 Dec;61(12):1085-91.

PMID:
12484571
18.

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy.

Rinne R, Saukko P, Järvinen M, Lehesjoki AE.

Ann Med. 2002;34(5):380-5.

PMID:
12452481
19.

Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

Mascalchi M, Michelucci R, Cosottini M, Tessa C, Lolli F, Riguzzi P, Lehesjoki AE, Tosetti M, Villari N, Tassinari CA.

Neurology. 2002 Jun 11;58(11):1686-9.

PMID:
12058102
20.

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME.

Am J Hum Genet. 2002 Feb;70(2):324-35. Epub 2001 Dec 21.

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