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J Tyynela

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Articles 29
Citations 421
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Recent Articles
1.
Aberg L, Talling M, Harkonen T, Lonnqvist T, Knip M, Alen R, et al.
Neurology . 2008 Apr; 70(14):1218-20. PMID: 18378887
No abstract available.
2.
Autti T, Hamalainen J, Aberg L, Lauronen L, Tyynela J, Van Leemput K
Eur J Neurol . 2007 Mar; 14(4):447-50. PMID: 17388996
Juvenile neuronal ceroid lipofuscinosis (CLN3) is characterized by progressive cerebral atrophy. The purpose of this study was to re-evaluate the three-dimensional magnetic resonance (3D-MR) images of patients with CLN3 using...
3.
TARDY C, Tyynela J, Hasilik A, Levade T, Andrieu-Abadie N
Cell Death Differ . 2003 Aug; 10(9):1090-100. PMID: 12934083
The role of cathepsin D in stress-induced cell death has been investigated by using ovine fibroblasts exhibiting a missense mutation in the active site of cathepsin D. The cathepsin D...
4.
Suopanki J, Lintunen M, Lahtinen H, Haltia M, Panula P, Baumann M, et al.
Neurobiol Dis . 2002 Sep; 10(3):247-57. PMID: 12270687
Kainic acid (KA)-induced experimental epilepsy, a model of excitotoxicity, leads to selective neuronal death and synaptic restructuring. We used this model to investigate the effects of neuronal hyperactivation on palmitoyl-protein...
5.
Tyynela J, Sohar I, Sleat D, Gin R, Donnelly R, Baumann M, et al.
Eur J Paediatr Neurol . 2001 Oct; 5 Suppl A:43-5. PMID: 11589006
We recently showed that a form of neuronal ceroid lipofuscinosis (NCL) in white Swedish landrace sheep is caused by a missense mutation in the cathepsin D gene resulting in complete...
6.
Haltia M, Herva R, Suopanki J, Baumann M, Tyynela J
Eur J Paediatr Neurol . 2001 Oct; 5 Suppl A:209-11. PMID: 11588999
Epilepsy is a common manifestation in all childhood-onset forms of neuronal ceroid lipofuscinosis. In order to document hippocampal lesions and their relationship to epilepsy we studied autopsy specimens from the...
7.
Tyynela J, Suopanki J
Neurol Sci . 2000 Nov; 21(3 Suppl):S21-5. PMID: 11073224
The neuronal ceroid lipofuscinoses (NCLs) collectively constitute the most common group of progressive brain diseases in children. The childhood forms of NCL are recessively inherited monogenic diseases, resulting in progressive...
8.
Suopanki J, Partanen S, Ezaki J, Baumann M, Kominami E, Tyynela J
Mol Genet Metab . 2000 Sep; 71(1-2):190-4. PMID: 11001810
Neuronal ceroid lipofuscinoses (NCL) form a distinct group of storage diseases where the normal development of the central nervous system is interrupted and neurons of the neocortex begin to degenerate....
9.
Tyynela J, Sohar I, Sleat D, Gin R, Donnelly R, Baumann M, et al.
EMBO J . 2000 Jun; 19(12):2786-92. PMID: 10856224
The neuronal ceroid lipofuscinoses (NCLs) constitute a group of neurodegenerative storage diseases characterized by progressive psychomotor retardation, blindness and premature death. Pathologically, there is accumulation of autofluorescent material in lysosome-derived...
10.
Riikonen R, Vanhanen S, Tyynela J, Santavuori P, Turpeinen U
Neurology . 2000 May; 54(9):1828-32. PMID: 10802792
Background: Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy in which the patients are severely disabled by the age of 3 years. It is characterized by cerebral atrophy, selective...