Share This Author
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder, and these data extend the phenotype associated with this gene.
Use of IgE and IgG4 epitope binding to predict the outcome of oral immunotherapy in cow's milk allergy
- E. Savilahti, M. Kuitunen, H. Sampson
- Biology, MedicinePediatric allergy and immunology : official…
- 1 May 2014
The objective was to explore whether IgE and IgG4 epitope binding profiles could predict the risk of side effects during CM OIT.
Genome-wide association study of neocortical Lewy-related pathology
- T. Peuralinna, L. Myllykangas, P. Tienari
- BiologyAnnals of clinical and translational neurology
- 18 August 2015
A genome‐wide association study (GWAS) on neocortical LRP in a population‐based sample of subjects aged 85 or over is carried out.
Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)
It is shown for the first time distinct risk loci for CAA and CapAβ, while TREM2 and HLA-DRB5 associated only with CapA β, and CASS4, CLU, and ZCWPW1 associatedonly with CAA.
CD8+ cell somatic mutations in multiple sclerosis patients and controls—Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies
The detected clustering of somatic mutations inCD8+ cells suggests a selection advantage of the mutated CD8+ clones and calls for further research on possible phenotypic effects.
[The pathogenesis of amyotrophic lateral sclerosis and frontal lobe dementia is unraveling: pathology of the nucleus and glutamate sensitivity].
- P. Tienari, Anna Kiviharju, M. Valori, D. Lindholm, H. Laaksovirta
- Biology, MedicineDuodecim; laaketieteellinen aikakauskirja
The role of the repeat expansion in the C90RF72 gene in the epidemiology of the diseases and the resulting disturbances in nerve cell function is discussed.
A novel class of somatic mutations in blood detected preferentially in CD8 + cells
Phosphorylation of Parkin at serine 65 is essential for its activation in vivo
The clinical relevance of the findings is substantiated by the discovery of homozygous PARKIN (PARK2) p.S65N mutations in two unrelated patients with PD and biochemical and structural analysis demonstrates that the ParkinS 65N/S65n mutant is pathogenic and cannot be activated by PINK1.