Search Results - "Kamarainen, O."
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Alterations in mitochondria-endoplasmic reticulum connectivity in human brain biopsies from idiopathic normal pressure hydrocephalus patients
Published in Acta neuropathologica communications (01-10-2018)“…Idiopathic normal pressure hydrocephalus (iNPH) is a neuropathology with unknown cause characterised by gait impairment, cognitive decline and…”
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Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis
Published in Osteoarthritis and cartilage (01-04-2016)“…Summary Objective The aim of the study was to identify genetic variants predisposing to primary hip and knee osteoarthritis (OA) in a sample of Finnish…”
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Aggrecan core protein of a certain length is protective against hand osteoarthritis
Published in Osteoarthritis and cartilage (01-10-2006)“…To study the contribution of aggrecan VNTR (variable number of tandem repeats) polymorphism to clinically differing manifestations of hand osteoarthritis (OA)…”
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Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
Published in Diabetologia (01-04-2008)“…Aims/hypothesis Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as ‘maturity-onset diabetes of the…”
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A novel retinoic acid-response element requires an enhancer element mediator for transcriptional activation
Published in Biochemical journal (01-10-2004)“…The Col11a2 gene codes for alpha2(XI), a subunit of type XI collagen that is a critical component of the cartilage extracellular matrix. The 5' regulatory…”
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European Consensus Conference for external quality assessment in molecular pathology
Published in Annals of oncology (01-08-2013)“…Molecular testing of tumor samples to guide treatment decisions is of increasing importance. Several drugs have been approved for treatment of molecularly…”
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Pathological consequences of VCP mutations on human striated muscle
Published in Brain (London, England : 1878) (01-02-2007)“…Mutations in the valosin-containing protein (VCP, p97) gene on chromosome 9p13–p12 cause a late-onset form of autosomal dominant inclusion body myopathy…”
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Endoscopic third ventriculostomy for adults with hydrocephalus: creating a prognostic model for success: protocol for a retrospective multicentre study (Nordic ETV)
Published in BMJ open (01-01-2022)“…IntroductionEndoscopic third ventriculostomy (ETV) is becoming an increasingly widespread treatment for hydrocephalus, but research is primarily based on…”
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Approaches to the Subnet Generation Problem
Published in 19th IEEE International Conference on Tools with Artificial Intelligence(ICTAI 2007) (01-10-2007)“…This paper introduces the subnet generation problem (SGP) which is a new type of network routing problem that is found, for example, in some peer-to-peer…”
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