Search Results - "Haltia, M."

Single-cell tumor-immune microenvironment of BRCA1/2 mutated high-grade serous ovarian cancer by Launonen, I.-M., Lyytikäinen, N., Casado, J., Anttila, E. A., Szabó, A., Haltia, U.-M., Jacobson, C. A., Lin, J. R., Maliga, Z., Howitt, B. E., Strickland, K. C., Santagata, S., Elias, K., D’Andrea, A. D., Konstantinopoulos, P. A., Sorger, P. K., Färkkilä, A.

“…The majority of high-grade serous ovarian cancers (HGSCs) are deficient in homologous recombination (HR) DNA repair, most commonly due to mutations or…”
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Chronology of Lake El'gygytgyn sediments – a combined magnetostratigraphic, palaeoclimatic and orbital tuning study based on multi-parameter analyses by Nowaczyk, N. R, Haltia, E. M, Ulbricht, D, Wennrich, V, Sauerbrey, M. A, Rosén, P, Vogel, H, Francke, A, Meyer-Jacob, C, Andreev, A. A, Lozhkin, A. V

“…A 318-metre-long sedimentary profile drilled by the International Continental Scientific Drilling Program (ICDP) at Site 5011-1 in Lake El'gygytgyn, Far East…”
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Magnetostratigraphy of sediments from Lake El'gygytgyn ICDP Site 5011-1: paleomagnetic age constraints for the longest paleoclimate record from the continental Arctic by Haltia, E. M, Nowaczyk, N. R

“…Paleomagnetic measurements were performed on sediments drilled from ICDP Site 5011-1 in Lake El'gygytgyn (67°30' N, 172°05' E) located in Far East Russian…”
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A new mini-invasive technique in treating pediatric diaphyseal forearm fractures by bioabsorbable elastic stable intramedullary nailing: a preliminary technical report by Sinikumpu, J.-J., Keränen, J., Haltia, A.-M., Serlo, W., Merikanto, J.

“…Background and Aim: Operative treatment is often indicated in unstable pediatric diaphyseal forearm fractures. Recently minimally invasive reduction and…”
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CNS manifestations of Nasu-Hakola disease : A frontal dementia with bone cysts by PALONEVA, J, AUTTI, T, RAININKO, R, PARTANEN, J, SALONEN, O, PURANEN, M, HAKOLA, P, HALTIA, M

“…Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a genetically heterogeneous disease…”
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Cutis laxa in hereditary gelsolin amyloidosis by Kiuru-Enari, S., Keski-Oja, J., Haltia, M.

“…Summary Background  Hereditary gelsolin amyloidosis (AGel amyloidosis) is an age‐associated systemic disease with global distribution, caused by a G654A or…”
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Prevalence of Alzheimer's disease in very elderly people : A prospective neuropathological study by POLVIKOSKI, T, SULKAVA, R, HALTIA, M, MYLLYKANGAS, L, NOTKOLA, I.-L, NIINISTÖ, L, VERKKONIEMI, A, KAINULAINEN, K, KONTULA, K, PEREZ-TUR, J, HARDY, J

“…No previous autopsy-controlled, prospective, and population-based studies are available on the prevalence of AD in very elderly people. To study the point…”
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Long-term outcome after removal of spinal schwannoma : a clinicopathological study of 187 cases by SEPPÄLÄ, M. T, HALTIA, M. J, SANKILA, R. J, JÄÄSKELÄINEN, J. E, HEISKANEN, O

“…Are spinal schwannomas as benign as we think? To what extent do patients recover? Are patients prone to develop late complications such as cystic myelopathy or…”
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Human prion diseases by Haltia, M

“…The term 'prion diseases' refers to a group of neurodegenerative disorders thought to be caused by prions, pathogenic agents with novel modes of replication…”
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Contribution of APOE promoter polymorphisms to Alzheimer's disease risk by LAMBERT, J.-C, ARARIA-GOUMIDI, L, FRIGARD, B, PETERSEN, R. C, CUMMING, A. M, PASQUIER, F, SASTRE, I, TIENARI, P. J, FRANK, A, SULKAVA, R, MORRIS, J. C, CLAIR, D. St, MYLLYKANGAS, L, MANN, D. M, WAVRANT-DEVRIEZE, F, EZQUERRA-TRABALON, M, AMOUYEL, P, HARDY, J, HALTIA, M, VALDIVIESO, F, GOATE, A. M, PEREZ-TUR, J, LENDON, C. L, ELLIS, C, CHARTIER-HARLIN, M.-C, WANG, J. C, BULLIDO, M. J, HARRIS, J. M, ARTIGA, M. J, HERNANDEZ, D, KWON, J. M

“…To determine whether the effects of APOE promoter polymorphisms on AD are independent of the APOE-epsilon4 allele. Recently, the -491 A-->T and -219 G-->T…”
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The structure of the presenilin 1 ( S182 ) gene and identification of six novel mutations in early onset AD families by Goate, A, Kosik, K, Talbot, C, Axelman, K, Roberts, G.W, Dickson, D, Mehta, N, Harvey, R, Winblad, B, Adams, M.D, Lantos, P, Karran, E, Arcos, M, Wragg, M, Froelich, S, Busfield, F, Morris, J, Martinez, A, Prihar, G, Zehr, C, Poyhonen, M, Viitanen, M, Myers, A, He, C, Behrens, M.I, Mann, D, Neary, D, Venter, J.C, Snowden, J, Korenblat, K, Duff, K, Ashworth, A, Rossor, M, Forsell, L, Cowburn, R, Ossa, J, Haltia, M, Pearson, C, Cline, R.T, Madrigal, L, Clark, R.F, Hutton, M, Johnston, J, Fuldner, M, Kennedy, A, Sarner, S, Lannfelt, L, Hardy, J, Roques, P, Collinge, J, Fox, N, Norton, J, Lilius, L, Lendon, C, Lincoln, S, Philips, C.A, Baker, M, Humphreys, C, Perez-Tur, J, Lopera, F, Crook, R, Houlden, H, Ruiz, A

“…Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182…”
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Muscle-eye-brain disease: a neuropathological study by Haltia, M, Leivo, I, Somer, H, Pihko, H, Paetau, A, Kivelä, T, Tarkkanen, A, Tomé, F, Engvall, E, Santavuori, P

“…A combination of congenital central nervous, ocular and muscular abnormalities is characteristic of muscle-eye-brain disease (MEB), of Fukuyama congenital…”
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Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA : Clinical, biochemical, and molecular genetic features of the 10q-linked disease by SUOMALAINEN, A, MAJANDER, A, LONNQVIST, J, PELTONEN, L, SOMER, H, WALLIN, M, SETÄLÄ, K, KONTULA, K, LEINONEN, H, SALMI, T, PAETAU, A, HALTIA, M, VALANNE, L

“…Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disease characterized by accumulation of multiple large deletions of mtDNA…”
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The Neuronal Ceroid–Lipofuscinoses by HALTIA, MATTI

“…The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in childhood and usually show an…”
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The normal population distribution of PRNP codon 129 polymorphism by Nurmi, M. H., Bishop, M., Strain, L., Brett, F., McGuigan, C., Hutchison, M., Farrell, M., Tilvis, R., Erkkilä, S., Simell, O., Knight, R., Haltia, M.

“…Objectives – The common prion protein gene (PRNP) codon 129 polymorphism modifies the susceptibility to and the phenotype of prion diseases. However, no truly…”
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Expression of endothelial cell-specific receptor tyrosine kinases and growth factors in human brain tumors by Hatva, E, Kaipainen, A, Mentula, P, Jaaskelainen, J, Paetau, A, Haltia, M, Alitalo, K

“…Key growth factor-receptor interactions involved in angiogenesis are possible targets for therapy of CNS tumors. Vascular endothelial growth factor (VEGF) is a…”
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Variant Alzheimer's disease with spastic paraparesis : Clinical characterization by VERKKONIEMI, A, SOMER, M, RINNE, J. O, MYLLYKANGAS, L, CROOK, R, HARDY, J, VIITANEN, M, KALIMO, H, HALTIA, M

“…To present the clinical, neuroimaging, and electrophysiologic characteristics of a variant AD phenotype. The authors have identified a large Finnish kindred…”
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Vascular growth factors and receptors in capillary hemangioblastomas and hemangiopericytomas by Hatva, E, Bohling, T, Jaaskelainen, J, Persico, MG, Haltia, M, Alitalo, K

“…Capillary hemangioblastomas and hemangiopericytomas are highly vascular central nervous system tumors of controversial origin. Of interest in their…”
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Status Epilepticus Induces Changes in the Expression and Localization of Endogenous Palmitoyl-Protein Thioesterase 1 by Suopanki, J., Lintunen, M., Lahtinen, H., Haltia, M., Panula, P., Baumann, M., Tyynelä, J.

“…Kainic acid (KA)-induced experimental epilepsy, a model of excitotoxicity, leads to selective neuronal death and synaptic restructuring. We used this model to…”
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Variant Late Infantile Neuronal Ceroid-lipofuscinosis: Pathology and Biochemistry by TYYNELÄ, J, SUOPANKI, J, SANTAVUORI, P, BAUMANN, M, HALTIA, M

“…The neuronal ceroid-lipofuscinoses (NCL) are among the most common inherited neurodegenerative disorders of childhood. The genomic defect causing a variant…”
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