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Items: 12

1.

Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy.

Rajendran J, Purhonen J, Tegelberg S, Smolander OP, Mörgelin M, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Auvinen P, Mervaala E, Jacobs HT, Szibor M, Fellman V, Kallijärvi J.

EMBO Mol Med. 2019 Jan;11(1). pii: e9456. doi: 10.15252/emmm.201809456.

2.

NAD+ repletion produces no therapeutic effect in mice with respiratory chain complex III deficiency and chronic energy deprivation.

Purhonen J, Rajendran J, Tegelberg S, Smolander OP, Pirinen E, Kallijärvi J, Fellman V.

FASEB J. 2018 May 21:fj201800090R. doi: 10.1096/fj.201800090R. [Epub ahead of print]

PMID:
29782205
3.

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V.

Orphanet J Rare Dis. 2017 Apr 20;12(1):73. doi: 10.1186/s13023-017-0624-2.

4.

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE.

Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040.

PMID:
28335020
5.

Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy.

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

J Neuroinflammation. 2016 Nov 28;13(1):298.

6.

Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.

Manninen O, Laitinen T, Lehtimäki KK, Tegelberg S, Lehesjoki AE, Gröhn O, Kopra O.

PLoS One. 2014 Mar 6;9(6):e90709. doi: 10.1371/journal.pone.0090709. eCollection 2014.

7.

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.

8.

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
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.

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

10.

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.

11.

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.

Hum Mutat. 2004 Apr;23(4):300-5.

PMID:
15024724
12.

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.

Am J Hum Genet. 2001 Oct;69(4):673-84. Epub 2001 Aug 27. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160.

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