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Träfflista för sökning "WFRF:(Popova E) srt2:(2010-2014)"

Sökning: WFRF:(Popova E) > (2010-2014)

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Numrering	Referens	Omslagsbild	Hitta
1.	Murray, CJL, et al. (författare) Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010 2012 Ingår i: Lancet (London, England). - 1474-547X. ; 380:9859, s. 2197-2223 Tidskriftsartikel (refereegranskat)
2.	Vos, T, et al. (författare) Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010 2012 Ingår i: Lancet (London, England). - 1474-547X. ; 380:9859, s. 2163-2196 Tidskriftsartikel (refereegranskat)
3.	Karpova, NN, et al. (författare) TrkB overexpression in mice buffers against memory deficits and depression-like behavior but not all anxiety- and stress-related symptoms induced by developmental exposure to methylmercury 2014 Ingår i: Frontiers in behavioral neuroscience. - : Frontiers Media SA. - 1662-5153. ; 8, s. 315- Tidskriftsartikel (refereegranskat)
4.	Lim, ML, et al. (författare) Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor 2014 Ingår i: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 9:9, s. e107712- Tidskriftsartikel (refereegranskat)
5.	Popova, Svetlana N, et al. (författare) Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family 2012 Ingår i: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 126:5, s. 315-323 Tidskriftsartikel (refereegranskat)abstract OBJECTIVES:Gerstmann-Sträussler-Scheinker syndrome belongs to the genetic prion diseases being associated with mutations in the prion protein gene (PRNP). The most common is the point mutation at codon 102, leading to the substitution of proline to leucine (P102L). Previous reports have indicated a phenotypic heterogeneity among individuals with this mutation. Here, we describe the clinical and pathological phenotype in members of the first Finnish kindred with the P102L mutation in the PNRP gene.MATERIALS AND METHODS:Genetic and clinical information was available in five members of a family, while a systematic histologic and immunohistochemical assessment of the post-mortem brain was carried out in three.RESULTS:Clinical presentation, disease duration and the clinical phenotype (ataxia vs dementia) varied between patients. There was a significant correlation between clinical symptoms and the neuroanatomical distribution of prion protein-immunoreactive aggregates, i.e. subtentorial predominance in ataxia vs cortical predominance in dementia. A significant concomitant Alzheimer is disease-related pathology was observed in the brain of one patient with dementia as onset symptom.CONCLUSIONS:This is the first Scandinavian family carrying the P102L mutation in the PRNP gene. Gerstmann-Sträussler-Scheinker syndrome should be considered in the differential diagnosis when handling with patients with ataxia and/or dementia of unclear aetiology.

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Typ av publikation: tidskriftsartikel (5)

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Författare/redaktör: Ferrari, A. (2); March, L. (2); Sliwa, K. (2); Miller, M. (2); Baxter, A. (2); Gupta, R. (2); visa fler...; Aggarwal, R. (2); Brayne, C (2); Campbell, B. (2); Page, A. (2); Robinson, C. (2); Tonelli, M. (2); Hall, W (2); Aboyans, V (2); Barrero, LH (2); Bell, ML (2); Bernabe, E (2); Bikbov, B (2); Bourne, R (2); Buchbinder, R (2); Cowie, BC (2); Cross, M (2); De Leo, D (2); Degenhardt, L (2); Dharmaratne, SD (2); Farzadfar, F (2); Gakidou, E (2); Gillum, RF (2); Haro, JM (2); Hay, RJ (2); Jacobsen, KH (2); James, SL (2); Jonas, JB (2); Kawakami, N (2); Lalloo, R (2); Leasher, JL (2); Leigh, J (2); Lopez, AD (2); Lozano, R (2); Malekzadeh, R (2); Mensah, GA (2); Miller, TR (2); Mitchell, PB (2); Monasta, L (2); Moradi-Lakeh, M (2); Morawska, L (2); Naghavi, M (2); Naldi, L (2); Patten, SB (2); Perico, N (2); visa färre...

Lärosäte: Karolinska Institutet (4); Uppsala universitet (1)

Språk: Engelska (5)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (1)

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