327 results on '"Majamaa, K."'
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2. Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy:a case report
3. Variations of mitochondrial DNA polymerase γ in patients with Parkinson’s disease
4. Prognosis of Huntingtonʼs disease in Finnish patients: 586
5. Investigation of autosomal genetic sex differences in Parkinson’s disease
6. Phenotype of patients with Charcot-Marie-Tooth with the p.His123Arg mutation in GDAP1 in northern Finland
7. Mutations in EIF4G1 are not a common cause of Parkinsonʼs disease
8. Rapid Induction of Meningeal Collagen Synthesis in the Cerebral Cisternal and Ventricular Compartments after Subarachnoid Hemorrhage
9. Complex segregation analysis of Parkinson's disease in the Finnish population
10. Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients
11. Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration
12. Causes of death in pedigrees with the 3243A>G mutation in mitochondrial DNA
13. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
14. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability
15. APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage
16. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency
17. No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation
18. Parallel Session 25 – Mortality: Increasing differences in mortality by marital status from 1975 to 2000: changes in sociodemographic, household and cause of death structure
19. Clinical features often raise the suspicion of a mitochondrial disease in adults
20. Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome
21. High concentrations of procollagen propeptides in chronic subdural haematoma and effusion
22. Molecular genetic analysis of the α-synuclein and the parkin gene in Parkinsonʼs disease in Finland
23. Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS)
24. Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA
25. The m.7510T>C mutation:hearing impairment and a complex neurologic phenotype
26. m.3243A>G Mutation in Mitochondrial DNA Leads to Decreased Insulin Sensitivity in Skeletal Muscle and to Progressive β-Cell Dysfunction
27. Debt Judgments as a Reflection of Consumption-Related Debt Problems.
28. Brain hub - digital healthcare services to patients with brain diseases, citizens and professionals
29. 028 Psychiatric and neurological disorders are associated with bullous pemphigoid – nationwide Finnish Care Register study
30. A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA.
31. Epidemiology of stroke in Finnish patients with Huntington's disease.
32. Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene
33. OP46 – 2969: Novel phenotypes of childhood encephalomyopathies with mitochondrial DNA depletion or deletions
34. Study of reverse osmosis treatment for micropollutants rejection in advanced water reuse applications.
35. PP6.7 – 1623 Acute liver failure in patients with POLG1 mutations after valproate exposure and their prognosis after liver transplantation
36. Pioneering demineralized and desalinated water cost reduction with innovative brackish water RO membrane technology.
37. Comparison of cellulose acetate and nanofiltration membranes for color removal from a Norwegian lake.
38. m.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive beta-cell dysfunction.
39. P65 Systematic review of controlled trials in the treatment of mitochondrial disorders
40. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.
41. Secondary metabolic effects in complex I deficiency.
42. Spectrum of myopathic findings in 50 patients with the 3243A<G mutation in mitochondrial DNA.
43. Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
44. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population.
45. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNA/Arg, tRNA/Glu, and tRNA/Leu(UUR) genes.
46. Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy.
47. Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population.
48. Transient increase in procollagen propeptides in the CSF after subarachnoid hemorrhage.
49. Detection of meningeal fibrosis after subarachnoid haemorrhage by assaying procollagen propeptides in cerebrospinal fluid.
50. Preservation of reverse osmosis membranes with non oxidizing biocides -- comparison with SMBS.
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