Research Topics
Genomes and GenesSpecies | A M RemesSummaryAffiliation: University of Oulu Country: Finland Publications
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Detail Information
Publications
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern FinlandAnna Lotta Kaivorinne
Department of Neurology, University of Oulu, Oulu, Finland
BMC Neurol 8:48. 2008..The H1 haplotype of MAPT has been found to be closely associated with tauopathies and with sporadic FTLD. Our aim was to investigate MAPT mutations and haplotype frequencies in a clinical series of patients with FTLD in Northern Finland...- Parkinsonism associated with the homozygous W748S mutation in the POLG1 geneA M Remes
Department of Neurology, University of Oulu, Box 5000, FIN 90014, Oulu, Finland
Parkinsonism Relat Disord 14:652-4. 2008..Parkinsonism is one of the phenotypic features associated also with the W748S mutation... - Carbon 11-labeled pittsburgh compound B positron emission tomographic amyloid imaging in patients with APP locus duplicationAnne M Remes
Clinical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland
Arch Neurol 65:540-4. 2008..To investigate amyloid accumulation by carbon 11-labeled Pittsburgh Compound B (11C-PiB) in hereditary cerebral amyloid angiopathy and APP locus duplication... - A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiencyAnne M Remes
Department of Neurology, University of Oulu, Oulu, Finland
J Mol Med (Berl) 82:550-4. 2004..Analysis of the FH mutation and the mutant enzyme variant described here provides an explanation for the mechanism of FH deficiency at the molecular level and paves the way for the analysis of other dysfunctional FH variants... - Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degenerationJohanna Krüger
Institute of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland
Mol Neurodegener 5:8. 2010.... - Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult populationK Majamaa
Department of Neurology, University of Oulu, Oulu, Finland
Am J Hum Genet 63:447-54. 1998..The high prevalence of the common MELAS mutation in the adult population suggests that mitochondrial disorders constitute one of the largest diagnostic categories of neurogenetic diseases... - A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNAK A M Majamaa-Voltti
Department of Internal Medicine, University of Oulu, Oulu, Finland
Neurology 66:1470-5. 2006..To follow the clinical course of patients with the mitochondrial DNA mutation 3243A>G for 3 years... - Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathyA M Remes
Department of Neurology, University of Oulu, PO Box 5000, FIN-90014 Oulu, Finland
Neurology 63:234-40. 2004..No amyloidogenic mutations were identified, but the role of the APP region could not be entirely excluded... - Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degenerationJ Kruger
Department of Neurology, University of Oulu, Oulu, Finland
Eur J Neurol 16:27-30. 2009..The frequency of these mutations varies between populations. The aim of this study was to determine mutations and genetic variations of the PGRN gene in Finnish patients with FTLD and FTLD with associated motor neuron disease (FTLD-MND)... - Comprehension of before and after in frontotemporal degenerationMerja Karjalainen
Department of Finnish, Information Studies and Logopedics, University of Oulu, Finland
Logoped Phoniatr Vocol 30:28-33. 2005..The results showed that the patients generally found after constructions more difficult. The difficulty was not, however, related to normal ageing, as was shown by the performance of the control group... - Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coliReetta Hinttala
Department of Clinical Medicine, Neurology, University of Oulu, 90014 Oulu, Finland
Mitochondrion 10:358-61. 2010..NADH dehydrogenase domain activity of NDH-1 with either one or both mutations was markedly decreased suggesting that m.4216T>C and m.3866T>C may have an effect on the structural integrity of complex I... - Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish populationA M Remes
Department of Neurology, University of Oulu, Finland
Neurology 64:976-81. 2005..CONCLUSIONS: The frequency of large-scale mitochondrial DNA deletions is similar among populations, suggesting that there is a constant rate of new deletions... - Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patientsA L Kaivorinne
Department of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland
Eur J Neurol 17:1393-5. 2010..However, CHMP2B has been showed to be a rare cause of FTLD. Our aim was to determine the frequency of CHMP2B mutations in a clinical series of patients with FTLD in Northern Finland... - Increasing incidence of multiple sclerosis in women in Northern FinlandO Krökki
Institute of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland
Mult Scler 17:133-8. 2011..The geographical distribution of multiple sclerosis (MS) means that prevalence rates increase with latitude north or south of the equator. Temporally, a tendency for increased incidences of MS has been observed over the past two decades... - Ubiquinone and nicotinamide treatment of patients with the 3243A-->G mtDNA mutationA M Remes
Department of Neurology, University of Oulu, Oulu, Finland
Neurology 59:1275-7. 2002..These deaths may have been unrelated to treatment. The unpredictable course of the disease makes evaluation of the clinical response difficult... - Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticusJohanna Uusimaa
Department of Pediatrics, University of Oulu, Oulu, Finland
Epilepsia 49:1038-45. 2008..Here we studied the molecular etiology of juvenile-onset AHS manifesting with status epilepticus and liver disease in three teenagers... - Cerebrospinal fluid antibodies to oxidized LDL are increased in Alzheimer's diseaseJari Kankaanpää
Department of Neurology, University of Oulu, Oulu, Finland
Neurobiol Dis 33:467-72. 2009..CSF IgG antibodies to OxLDL were significantly increased in AD patients compared to controls and to patients with frontotemporal lobar degeneration. The role of these antibodies in CSF is unknown and further investigations are needed... - Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathyReetta Hinttala
Department of Neurology, University of Oulu, Finland
J Mol Med 83:786-94. 2005..We suggest that Arg18Cys in the leading peptide of the TYKY subunit is not solely pathogenic, and that other genetic factors contribute to the disease-causing potential of this mutation... - Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIFPeppi Koivunen
Collagen Research Unit, Biocenter Oulu, Departments of Medical Biochemistry and Molecular Biology and Neurology, University of Oulu, FIN 90014 Oulu, Finland
J Biol Chem 282:4524-32. 2007.... - Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genesJohanna Uusimaa
Department of Departments of Pediatrics, University of Oulu, Oulu, Finland
Pediatrics 114:443-50. 2004..Seventeen of them were found to have both a defect in the mitochondrial respiratory chain and abnormal ultrastructure of muscle mitochondria, suggesting a clinically probable mitochondrial encephalopathy... - Dance/Movement Therapeutic methods in management of dementiaLaura Hokkanen
J Am Geriatr Soc 51:576-7. 2003 - Dance and movement therapeutic methods in management of dementia: a randomized, controlled studyLaura Hokkanen
J Am Geriatr Soc 56:771-2. 2008 - Differential metabolic consequences of fumarate hydratase and respiratory chain defectsNuno Raimundo
Program of Molecular Neurology Biomedicum Helsinki, Finland
Biochim Biophys Acta 1782:287-94. 2008..The lack of cytoplasmic form of FH and the reduced redox environment were typical for all FH-mutant lines, and their role in FH-related tumorigenesis requires further attention...