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Sequence Variation in the tRNA Genes of Human Mitochondrial DNA.
- Published in:
- Journal of Molecular Evolution, 2005, v. 60, n. 5, p. 587, doi. 10.1007/s00239-003-0202-1
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- Publication type:
- Article
Mitochondrial DNA polymorphisms as risk factors for Parkinson’s disease and Parkinson’s disease dementia.
- Published in:
- Human Genetics, 2004, v. 115, n. 1, p. 29, doi. 10.1007/s00439-004-1123-9
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- Publication type:
- Article
Increased variation in mtDNA in patients with familial sensorineural hearing impairment.
- Published in:
- Human Genetics, 2003, v. 113, n. 3, p. 220, doi. 10.1007/s00439-003-0966-9
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- Publication type:
- Article
Mitochondrial DNA polymorphisms associated with longevity in a Finnish population.
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- Human Genetics, 2003, v. 112, n. 1, p. 29, doi. 10.1007/s00439-002-0843-y
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- Publication type:
- Article
Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression.
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- Human Genetics, 2001, v. 108, n. 4, p. 284, doi. 10.1007/s004390100475
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- Publication type:
- Article
A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00501-4
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- Publication type:
- Article
Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01059-5
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- Publication type:
- Article
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 3, p. 278, doi. 10.1002/ana.21196
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- Publication type:
- Article
Secondary metabolic effects in complex I deficiency.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 544
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- Publication type:
- Article
Adult‐onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 2, p. 337
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- Publication type:
- Article
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
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- Annals of Neurology, 2003, v. 54, n. 5, p. 665
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- Publication type:
- Article
Proteome and cytoskeleton responses in osteosarcoma cells with reduced OXPHOS activity.
- Published in:
- Proteomics, 2007, v. 7, n. 13, p. 2189, doi. 10.1002/pmic.200601031
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- Publication type:
- Article
Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 10, p. 786, doi. 10.1007/s00109-005-0712-y
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- Publication type:
- Article
A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL.
- Published in:
- Journal of Molecular Medicine, 2001, v. 79, n. 11, p. 641, doi. 10.1007/s001090100268
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- Publication type:
- Article
Relative contribution of comorbid diseases to health-related quality of life in patients with Parkinson's disease.
- Published in:
- Journal of Patient-Reported Outcomes, 2024, v. 8, n. 1, p. 1, doi. 10.1186/s41687-024-00746-4
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- Publication type:
- Article
Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.
- Published in:
- Neuroepidemiology, 2017, v. 49, n. 1/2, p. 34, doi. 10.1159/000478860
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- Publication type:
- Article
Progressive External Ophthalmoplegia in Southwestern Finland: A Clinical and Genetic Study.
- Published in:
- Neuroepidemiology, 2012, v. 38, n. 2, p. 114, doi. 10.1159/000336112
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- Publication type:
- Article
Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 10, p. 1268, doi. 10.1001/jamaneurol.2013.448
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- Publication type:
- Article
Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1861
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- Publication type:
- Article
Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report.
- Published in:
- 2022
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- Publication type:
- Case Study
Molecular epidemiology of hereditary ataxia in Finland.
- Published in:
- 2021
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- Publication type:
- journal article
Analysis of functional variants in mitochondrial DNA of Finnish athletes.
- Published in:
- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6171-6
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- Publication type:
- Article
Association between mitochondrial DNA haplogroups J and K, serum branched-chain amino acids and lowered capability for endurance exercise.
- Published in:
- BMC Sports Science, Medicine & Rehabilitation, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13102-022-00485-3
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- Publication type:
- Article
The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.
- Published in:
- Brain & Behavior, 2017, v. 7, n. 12, p. n/a, doi. 10.1002/brb3.859
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- Publication type:
- Article
Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 2, p. 182, doi. 10.1007/s00467-005-2116-1
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- Publication type:
- Article
Comment regarding Hannula et al, 2011.
- Published in:
- 2014
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- Publication type:
- Letter to the Editor
Self-Reported Hearing Problems among Older Adults: Prevalence and Comparison to Measured Hearing Impairment.
- Published in:
- Journal of the American Academy of Audiology, 2011, v. 22, n. 8, p. 550, doi. 10.3766/jaaa.22.8.7
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- Publication type:
- Article
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 965, doi. 10.1038/sj.ejhg.5201438
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- Publication type:
- Article
A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects.
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 166, doi. 10.1038/sj.ejhg.5201308
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- Publication type:
- Article
Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G.
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- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 59, doi. 10.1038/sj.ejhg.5200550
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- Publication type:
- Article
Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200455
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- Publication type:
- Article
Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.
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- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 7, p. 630, doi. 10.1111/j.1755-3768.2012.02506.x
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- Publication type:
- Article
Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.
- Published in:
- BMC Cardiovascular Disorders, 2002, v. 2, p. 12, doi. 10.1186/1471-2261-2-12
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- Publication type:
- Article
Chronic subdural hematomas in Finnish patients with Huntington's disease.
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- Acta Neurochirurgica, 2016, v. 158, n. 8, p. 1487, doi. 10.1007/s00701-016-2845-x
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- Publication type:
- Article
Glycosaminoglycans in subdural fluid and CSF after meningeal injury.
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- Acta Neurochirurgica, 2015, v. 157, n. 12, p. 2105, doi. 10.1007/s00701-015-2591-5
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- Publication type:
- Article
Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55479-y
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- Publication type:
- Article
Craniofacial Morphology in Children of Mothers With the m.3243A>G Mutation in Mitochondrial DNA.
- Published in:
- Cleft Palate Craniofacial Journal, 2010, v. 47, n. 3, p. 234, doi. 10.1597/08-131.1
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- Publication type:
- Article
Inhibition of Prolyl Hydroxylation During Collagen Biosynthesis in Human Skin Fibroblast Cultures by Ethyl 3,4-Dihydroxybenzoate.
- Published in:
- Journal of Investigative Dermatology, 1987, v. 89, n. 4, p. 405, doi. 10.1111/1523-1747.ep12471775
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- Publication type:
- Article
Epidemiology and characteristics of occipital brain infarcts in young adults in southwestern Finland.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 2, p. 259, doi. 10.1007/s00415-009-5305-1
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- Publication type:
- Article
Procollagen propeptides in chronic subdural hematoma reveal sustained dural collagen synthesis after head injury.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 1, p. 66, doi. 10.1007/s00415-009-0048-6
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- Publication type:
- Article
Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 5, p. 556, doi. 10.1007/s00415-004-0363-x
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- Publication type:
- Article
Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 2, p. 216, doi. 10.1007/s00415-003-0981-8
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- Publication type:
- Article
Evidence for mtDNA Admixture between the Finns and the Saami.
- Published in:
- Human Heredity, 2001, v. 52, n. 3, p. 160, doi. 10.1159/000053372
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- Publication type:
- Article
Audiological Follow-Up of Children with the m.1555A>G Mutation in Mitochondrial DNA.
- Published in:
- Audiology & Neurotology, 2012, v. 18, n. 1, p. 23, doi. 10.1159/000342905
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- Publication type:
- Article
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 495, doi. 10.1038/jhg.2013.29
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- Publication type:
- Article
Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 1, p. 83, doi. 10.1111/aos.12897
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- Publication type:
- Article
Association of biallelic RFC1 expansion with early‐onset Parkinson's disease.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 5, p. 1256, doi. 10.1111/ene.15717
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- Publication type:
- Article
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study.
- Published in:
- Acta Diabetologica, 2013, v. 50, n. 5, p. 737, doi. 10.1007/s00592-012-0393-2
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- Publication type:
- Article