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A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL.
Finnilä S, Tuisku S, Herva R, Majamaa K. Finnilä S, et al. J Mol Med (Berl). 2001 Nov;79(11):641-7. doi: 10.1007/s001090100268. J Mol Med (Berl). 2001. PMID: 11715067
Therefore we determined the nucleotide sequence in the entire coding region of the patient's mtDNA by conformation-sensitive gel electrophoresis and sequencing. ...
Therefore we determined the nucleotide sequence in the entire coding region of the patient's mtDNA by conformation-sensitive gel elec …
Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study.
Roine S, Harju M, Kivelä TT, Pöyhönen M, Nikoskelainen E, Tuisku S, Kalimo H, Viitanen M, Summanen PA. Roine S, et al. Among authors: tuisku s. Ophthalmology. 2006 Aug;113(8):1411-7. doi: 10.1016/j.ophtha.2006.03.030. Ophthalmology. 2006. PMID: 16877080
Arterioles of the lenticular nucleus in CADASIL.
Miao Q, Paloneva T, Tuisku S, Roine S, Poyhonen M, Viitanen M, Kalimo H. Miao Q, et al. Among authors: tuisku s. Stroke. 2006 Sep;37(9):2242-7. doi: 10.1161/01.STR.0000236838.84150.c2. Epub 2006 Jul 27. Stroke. 2006. PMID: 16873707
Fibrosis and stenosis of the long penetrating cerebral arteries: the cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Miao Q, Paloneva T, Tuominen S, Pöyhönen M, Tuisku S, Viitanen M, Kalimo H. Miao Q, et al. Brain Pathol. 2004 Oct;14(4):358-64. doi: 10.1111/j.1750-3639.2004.tb00078.x. Brain Pathol. 2004. PMID: 15605982
Detection of the founder effect in Finnish CADASIL families.
Mykkänen K, Savontaus ML, Juvonen V, Sistonen P, Tuisku S, Tuominen S, Penttinen M, Lundkvist J, Viitanen M, Kalimo H, Pöyhönen M. Mykkänen K, et al. Eur J Hum Genet. 2004 Oct;12(10):813-9. doi: 10.1038/sj.ejhg.5201221. Eur J Hum Genet. 2004. PMID: 15378071
Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients.
Tuominen S, Miao Q, Kurki T, Tuisku S, Pöyhönen M, Kalimo H, Viitanen M, Sipilä HT, Bergman J, Rinne JO. Tuominen S, et al. Stroke. 2004 May;35(5):1063-7. doi: 10.1161/01.STR.0000124124.69842.2d. Epub 2004 Mar 11. Stroke. 2004. PMID: 15017012
Insidious cognitive decline in CADASIL.
Amberla K, Wäljas M, Tuominen S, Almkvist O, Pöyhönen M, Tuisku S, Kalimo H, Viitanen M. Amberla K, et al. Stroke. 2004 Jul;35(7):1598-602. doi: 10.1161/01.STR.0000129787.92085.0a. Epub 2004 May 13. Stroke. 2004. PMID: 15143298
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation.
Tuominen S, Juvonen V, Amberla K, Jolma T, Rinne JO, Tuisku S, Kurki T, Marttila R, Pöyhönen M, Savontaus ML, Viitanen M, Kalimo H. Tuominen S, et al. Stroke. 2001 Aug;32(8):1767-74. doi: 10.1161/01.str.32.8.1767. Stroke. 2001. PMID: 11486103
This is markedly earlier than the average, but the patient's heterozygous son had his first transient ischemic attack-like episode at the same age and another heterozygous patient had his first-ever stroke when only 2 years older. ...CONCLUSIONS: Our homozygous patient' …
This is markedly earlier than the average, but the patient's heterozygous son had his first transient ischemic attack-like episode at …
Neurologic symptoms are common during gestation and puerperium in CADASIL.
Roine S, Pöyhönen M, Timonen S, Tuisku S, Marttila R, Sulkava R, Kalimo H, Viitanen M. Roine S, et al. Among authors: tuisku s. Neurology. 2005 Apr 26;64(8):1441-3. doi: 10.1212/01.WNL.0000158655.71323.8A. Neurology. 2005. PMID: 15851739
Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation.
Martikainen P, Pikkarainen M, Pöntynen K, Hiltunen M, Lehtovirta M, Tuisku S, Soininen H, Alafuzoff I. Martikainen P, et al. Among authors: tuisku s. Neuropathol Appl Neurobiol. 2010 Feb;36(1):41-54. doi: 10.1111/j.1365-2990.2009.01046.x. Epub 2009 Oct 22. Neuropathol Appl Neurobiol. 2010. PMID: 19849793
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