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Page 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: kalimo h. J Med Genet. 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859. J Med Genet. 2012. PMID: 22693283 Free PMC article.
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: kalimo h. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978
White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice.
Manninen O, Koskenkorva P, Lehtimäki KK, Hyppönen J, Könönen M, Laitinen T, Kalimo H, Kopra O, Kälviäinen R, Gröhn O, Lehesjoki AE, Vanninen R. Manninen O, et al. Among authors: kalimo h. Radiology. 2013 Oct;269(1):232-9. doi: 10.1148/radiol.13122458. Epub 2013 Jun 20. Radiology. 2013. PMID: 23788720
APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis.
Peuralinna T, Tanskanen M, Mäkelä M, Polvikoski T, Paetau A, Kalimo H, Sulkava R, Hardy J, Lai SL, Arepalli S, Hernandez D, Traynor BJ, Singleton A, Tienari PJ, Myllykangas L. Peuralinna T, et al. Among authors: kalimo h. J Alzheimers Dis. 2011;26(2):377-85. doi: 10.3233/JAD-2011-102049. J Alzheimers Dis. 2011. PMID: 21654062 Free PMC article.
CADASIL and CARASIL.
Tikka S, Baumann M, Siitonen M, Pasanen P, Pöyhönen M, Myllykangas L, Viitanen M, Fukutake T, Cognat E, Joutel A, Kalimo H. Tikka S, et al. Among authors: kalimo h. Brain Pathol. 2014 Sep;24(5):525-44. doi: 10.1111/bpa.12181. Brain Pathol. 2014. PMID: 25323668 Free PMC article. Review.
Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.
Peuralinna T, Oinas M, Polvikoski T, Paetau A, Sulkava R, Niinistö L, Kalimo H, Hernandez D, Hardy J, Singleton A, Tienari PJ, Myllykangas L. Peuralinna T, et al. Among authors: kalimo h. Ann Neurol. 2008 Sep;64(3):348-52. doi: 10.1002/ana.21446. Ann Neurol. 2008. PMID: 18661559 Free PMC article.
335 results