Joensuu T - Search Results

1

Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis.

Daura E, Tegelberg S, Yoshihara M, Jackson C, Simonetti F, Aksentjeff K, Ezer S, Hakala P, Katayama S, Kere J, Lehesjoki AE, Joensuu T. Daura E, et al. Among authors: joensuu t. Neurobiol Dis. 2021 Aug;156:105418. doi: 10.1016/j.nbd.2021.105418. Epub 2021 Jun 5. Neurobiol Dis. 2021. PMID: 34102276 Free article.

2

A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q.

Joensuu T, Hämäläinen R, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Genomics. 2000 Feb 1;63(3):409-16. doi: 10.1006/geno.1999.6096. Genomics. 2000. PMID: 10704288

3

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.

Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE. Alakurtti K, et al. Among authors: joensuu t. Gene. 2000 Jan 25;242(1-2):65-73. doi: 10.1016/s0378-1119(99)00550-8. Gene. 2000. PMID: 10721698

4

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Am J Hum Genet. 2001 Oct;69(4):673-84. doi: 10.1086/323610. Epub 2001 Aug 27. Am J Hum Genet. 2001. PMID: 11524702 Free PMC article.

5

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: joensuu t. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978

6

Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing.

Hämäläinen RH, Joensuu T, Kallijärvi J, Lehesjoki AE. Hämäläinen RH, et al. Among authors: joensuu t. Gene. 2006 Jan 17;366(1):180-8. doi: 10.1016/j.gene.2005.08.008. Epub 2005 Nov 28. Gene. 2006. PMID: 16310976

7

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. 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

8

Molecular background of EPM1-Unverricht-Lundborg disease.

Joensuu T, Lehesjoki AE, Kopra O. Joensuu T, et al. 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.

9

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. Lehtinen MK, et al. Among authors: joensuu t. J Neurosci. 2009 May 6;29(18):5910-5. doi: 10.1523/JNEUROSCI.0682-09.2009. J Neurosci. 2009. PMID: 19420257 Free PMC article.

10

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. Tegelberg S, et al. Among authors: joensuu t. J Neuropathol Exp Neurol. 2012 Jan;71(1):40-53. doi: 10.1097/NEN.0b013e31823e68e1. J Neuropathol Exp Neurol. 2012. PMID: 22157618

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