Works by Majamaa, Kari
Results: 92
Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus.
- Published in:
- BMC Research Notes, 2012, v. 5, n. 1, p. 350, doi. 10.1186/1756-0500-5-350
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- Article
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
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- 2017
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- Publication type:
- journal article
Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study.
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- Acta Diabetologica, 2013, v. 50, n. 5, p. 737, doi. 10.1007/s00592-012-0393-2
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- 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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- Article
Mitochondrial DNA polymorphisms as risk factors for Parkinson’s disease and Parkinson’s disease dementia.
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- Human Genetics, 2004, v. 115, n. 1, p. 29, doi. 10.1007/s00439-004-1123-9
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- Article
Increased variation in mtDNA in patients with familial sensorineural hearing impairment.
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- Human Genetics, 2003, v. 113, n. 3, p. 220, doi. 10.1007/s00439-003-0966-9
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- 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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- 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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- Article
Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55479-y
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- Article
Association of biallelic RFC1 expansion with early‐onset Parkinson's disease.
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- European Journal of Neurology, 2023, v. 30, n. 5, p. 1256, doi. 10.1111/ene.15717
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- 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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- 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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- Article
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 495, doi. 10.1038/jhg.2013.29
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- Article
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
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- 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.
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- Human Molecular Genetics, 2006, v. 15, n. 17, p. 2543, doi. 10.1093/hmg/ddl176
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- Article
Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration.
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- Molecular Neurodegeneration, 2010, v. 5, p. 1, doi. 10.1186/1750-1326-5-8
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- Article
m.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive beta-cell dysfunction.
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- 2009
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- journal article
m.3243A>G Mutation in Mitochondrial DNA Leads to Decreased Insulin Sensitivity in Skeletal Muscle and to Progressive γ-Cell Dysfunction.
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- Diabetes, 2009, v. 58, n. 3, p. 543, doi. 10.2337/db08-0981
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- Article
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
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- Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1038, doi. 10.1111/j.1528-1167.2008.01544.x
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- Article
Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report.
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- 2022
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- Case Study
Proteome and cytoskeleton responses in osteosarcoma cells with reduced OXPHOS activity.
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- Proteomics, 2007, v. 7, n. 13, p. 2189, doi. 10.1002/pmic.200601031
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- Article
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.
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- 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
Association between mitochondrial DNA haplogroups J and K, serum branched-chain amino acids and lowered capability for endurance exercise.
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- BMC Sports Science, Medicine & Rehabilitation, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13102-022-00485-3
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- Article
Craniofacial Morphology in Children of Mothers With the m.3243A>G Mutation in Mitochondrial DNA.
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- Cleft Palate Craniofacial Journal, 2010, v. 47, n. 3, p. 234, doi. 10.1597/08-131.1
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- Article
Comment regarding Hannula et al, 2011.
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- 2014
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- Letter to the Editor
Self-Reported Hearing Problems among Older Adults: Prevalence and Comparison to Measured Hearing Impairment.
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- 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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- Article
Cardiovascular autonomic regulation in patients with 3243A>G mitochondrial DNA mutation.
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- Annals of Medicine, 2004, v. 36, n. 3, p. 225, doi. 10.1080/07853890410028456
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- 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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- Article
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.
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- Annals of Neurology, 2007, v. 62, n. 3, p. 278, doi. 10.1002/ana.21196
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- Article
Secondary metabolic effects in complex I deficiency.
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- Annals of Neurology, 2005, v. 58, n. 4, p. 544
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- Article
Adult‐onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation.
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- 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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- Article
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
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- 2018
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- Publication type:
- journal article
Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.
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- Journal of Neurology, 2004, v. 251, n. 5, p. 556, doi. 10.1007/s00415-004-0363-x
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- Article
Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA.
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- Journal of Neurology, 2003, v. 250, n. 2, p. 216, doi. 10.1007/s00415-003-0981-8
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- Article
Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.
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- 2006
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- Publication type:
- Correction Notice
Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.
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- Neurogenetics, 2006, v. 7, n. 3, p. 185, doi. 10.1007/s10048-006-0049-x
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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.
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- JAMA Neurology, 2013, v. 70, n. 10, p. 1268, doi. 10.1001/jamaneurol.2013.448
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- Article
The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.
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- Brain & Behavior, 2017, v. 7, n. 12, p. n/a, doi. 10.1002/brb3.859
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- Article
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
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- 2018
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- Publication type:
- journal 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
Mitochondrial DNA variation in sudden cardiac death: a population-based study.
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- International Journal of Legal Medicine, 2020, v. 134, n. 1, p. 39, doi. 10.1007/s00414-019-02091-4
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- 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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- Article
Psychiatric and neurological disorders are associated with bullous pemphigoid - a nationwide Finnish Care Register study.
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- Scientific Reports, 2016, p. 37125, doi. 10.1038/srep37125
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- Publication type:
- Article
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.
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- Case Reports in Neurological Medicine, 2012, p. 1, doi. 10.1155/2012/615721
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- Article
Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).
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- Pediatric Nephrology, 2006, v. 21, n. 2, p. 182, doi. 10.1007/s00467-005-2116-1
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- Article
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2821, doi. 10.1093/hmg/9.19.2821
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- Article
Analysis of functional variants in mitochondrial DNA of Finnish athletes.
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- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6171-6
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- Article
Evidence for mtDNA Admixture between the Finns and the Saami.
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- Human Heredity, 2001, v. 52, n. 3, p. 160, doi. 10.1159/000053372
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- 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