Lehesjoki AE - Search Results

1

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE. Kousi M, et al. Among authors: lehesjoki ae. J Med Genet. 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859. J Med Genet. 2012. PMID: 22693283 Free PMC article.

2

Molecular background of progressive myoclonus epilepsy.

Lehesjoki AE. Lehesjoki AE. EMBO J. 2003 Jul 15;22(14):3473-8. doi: 10.1093/emboj/cdg338. EMBO J. 2003. PMID: 12853462 Free PMC article. Review.

3

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE. Ranta S, et al. Among authors: lehesjoki ae. Hum Mutat. 2004 Apr;23(4):300-5. doi: 10.1002/humu.20018. Hum Mutat. 2004. PMID: 15024724

4

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

Lonka L, Salonen T, Siintola E, Kopra O, Lehesjoki AE, Jalanko A. Lonka L, et al. Among authors: lehesjoki ae. J Neurosci Res. 2004 Jun 15;76(6):862-71. doi: 10.1002/jnr.20133. J Neurosci Res. 2004. PMID: 15160397

5

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. Alakurtti K, et al. Among authors: lehesjoki ae. Eur J Hum Genet. 2005 Feb;13(2):208-15. doi: 10.1038/sj.ejhg.5201300. Eur J Hum Genet. 2005. PMID: 15483648

6

The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.

Lonka L, Aalto A, Kopra O, Kuronen M, Kokaia Z, Saarma M, Lehesjoki AE. Lonka L, et al. Among authors: lehesjoki ae. BMC Neurosci. 2005 Apr 13;6:27. doi: 10.1186/1471-2202-6-27. BMC Neurosci. 2005. PMID: 15826318 Free PMC article.

7

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. Anttonen AK, et al. Among authors: lehesjoki ae. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978

8

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. Joensuu T, et al. Among authors: lehesjoki ae. Eur J Hum Genet. 2007 Feb;15(2):185-93. doi: 10.1038/sj.ejhg.5201723. Epub 2006 Sep 27. Eur J Hum Genet. 2007. PMID: 17003839

9

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. Siintola E, et al. Among authors: lehesjoki ae. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 May 14. Am J Hum Genet. 2007. PMID: 17564970 Free PMC article.

10

Molecular background of EPM1-Unverricht-Lundborg disease.

Joensuu T, Lehesjoki AE, Kopra O. Joensuu T, et al. Among authors: lehesjoki ae. Epilepsia. 2008 Apr;49(4):557-63. doi: 10.1111/j.1528-1167.2007.01422.x. Epub 2007 Nov 19. Epilepsia. 2008. PMID: 18028412 Free article. Review.

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