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Lineage-Specific Selection in Human mtDNA: Lack of Polymorphisms in a Segment of MTND5 Gene in Haplogroup J.
- Published in:
- Molecular Biology & Evolution, 2003, v. 20, n. 12, p. 2132, doi. 10.1093/molbev/msg230
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- Publication type:
- Article
Phylogenetic Network and Physicochemical Properties of Nonsynonymous Mutations in the Protein-Coding Genes of Human Mitochondrial DNA.
- Published in:
- Molecular Biology & Evolution, 2003, v. 20, n. 8, p. 1195, doi. 10.1093/molbev/msg121
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- Publication type:
- 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
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.
- Published in:
- 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.
- Published in:
- Human Genetics, 2001, v. 108, n. 4, p. 284, doi. 10.1007/s004390100475
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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
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
- Published in:
- 2017
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- Publication type:
- journal 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.
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- Audiology & Neurotology, 2012, v. 18, n. 1, p. 23, doi. 10.1159/000342905
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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
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 562
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- Publication type:
- Article
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 5, p. 1039
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- Publication type:
- Article
The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 17, p. 2543, doi. 10.1093/hmg/ddl176
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- Publication type:
- Article
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
- Published in:
- 2018
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- Publication type:
- journal article
m.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive beta-cell dysfunction.
- Published in:
- 2009
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- Publication type:
- journal article
m.3243A>G Mutation in Mitochondrial DNA Leads to Decreased Insulin Sensitivity in Skeletal Muscle and to Progressive γ-Cell Dysfunction.
- Published in:
- Diabetes, 2009, v. 58, n. 3, p. 543, doi. 10.2337/db08-0981
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- Publication type:
- Article
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0377-8
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- Publication type:
- Article
Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.
- Published in:
- 2006
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- Publication type:
- Correction notice
Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.
- Published in:
- Neurogenetics, 2006, v. 7, n. 3, p. 185, doi. 10.1007/s10048-006-0049-x
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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
Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population.
- Published in:
- 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
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
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.
- Published in:
- 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.
- Published in:
- 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
Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.
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- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 1, p. 83, doi. 10.1111/aos.12897
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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.
- Published in:
- 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
Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration.
- Published in:
- Molecular Neurodegeneration, 2010, v. 5, p. 1, doi. 10.1186/1750-1326-5-8
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- Publication type:
- Article
Inhibition of Prolyl Hydroxylation During Collagen Biosynthesis in Human Skin Fibroblast Cultures by Ethyl 3,4-Dihydroxybenzoate.
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- Journal of Investigative Dermatology, 1987, v. 89, n. 4, p. 405, doi. 10.1111/1523-1747.ep12471775
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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
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- Publication type:
- journal article
Chronic subdural hematomas in Finnish patients with Huntington's disease.
- Published in:
- 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.
- Published in:
- Acta Neurochirurgica, 2015, v. 157, n. 12, p. 2105, doi. 10.1007/s00701-015-2591-5
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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
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
Status epilepticus in POLG disease: a large multinational study.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5
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- Publication type:
- Article
Comparison of mid-age-onset and late-onset Huntington's disease in Finnish patients.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 10, p. 2095, doi. 10.1007/s00415-017-8600-2
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- Publication type:
- Article
A novel mutation m.8561C>G in MT- ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 11, p. 2188, doi. 10.1007/s00415-016-8249-2
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- Publication type:
- Article
Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 8, p. 2078, doi. 10.1007/s00415-013-6940-0
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- Publication type:
- Article
A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 8, p. 1585, doi. 10.1007/s00415-011-6382-5
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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
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-021-00275-7
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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
Genome Wide Assessment of Young Onset Parkinson's Disease from Finland.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Somatic Point Mutations in mtDNA Control Region Are Influenced by Genetic Background and Associated with Healthy Aging: A GEHA Study.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013395
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- Publication type:
- Article