Works matching AU Majamaa, Kari
Results: 92
Sequence Variation in the tRNA Genes of Human Mitochondrial DNA.
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- Journal of Molecular Evolution, 2005, v. 60, n. 5, p. 587, doi. 10.1007/s00239-003-0202-1
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- Article
A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.
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- 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
Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.
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- Neuroepidemiology, 2017, v. 49, n. 1/2, p. 34, doi. 10.1159/000478860
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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
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
Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus.
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- BMC Research Notes, 2012, v. 5, n. 1, p. 350, doi. 10.1186/1756-0500-5-350
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- Article
Association of mitochondrial DNA haplogroups and vascular complications of diabetes mellitus: A population-based study.
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- Diabetes & Vascular Disease Research, 2015, v. 12, n. 4, p. 302, doi. 10.1177/1479164115579007
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- Article
WFS1 mutations in hearing-impaired children.
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- International Journal of Audiology, 2014, v. 53, n. 7, p. 446, doi. 10.3109/14992027.2014.887230
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- Article
Ear diseases and other risk factors for hearing impairment among adults: An epidemiological study.
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- International Journal of Audiology, 2012, v. 51, n. 11, p. 833, doi. 10.3109/14992027.2012.707334
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- Article
Audiogram configurations among older adults: Prevalence and relation to self-reported hearing problems.
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- International Journal of Audiology, 2011, v. 50, n. 11, p. 793, doi. 10.3109/14992027.2011.593562
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- Article
Hearing in a 54- to 66-year-old population in northern Finland.
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- International Journal of Audiology, 2010, v. 49, n. 12, p. 920, doi. 10.3109/14992027.2010.510146
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- Article
Progressive External Ophthalmoplegia in Southwestern Finland: A Clinical and Genetic Study.
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- Neuroepidemiology, 2012, v. 38, n. 2, p. 114, doi. 10.1159/000336112
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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
Status epilepticus in POLG disease: a large multinational study.
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- Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5
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- Article
Comparison of mid-age-onset and late-onset Huntington's disease in Finnish patients.
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- Journal of Neurology, 2017, v. 264, n. 10, p. 2095, doi. 10.1007/s00415-017-8600-2
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- Article
A novel mutation m.8561C>G in MT- ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
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- Journal of Neurology, 2016, v. 263, n. 11, p. 2188, doi. 10.1007/s00415-016-8249-2
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- 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.
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- Journal of Neurology, 2013, v. 260, n. 8, p. 2078, doi. 10.1007/s00415-013-6940-0
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- Article
A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.
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- Journal of Neurology, 2012, v. 259, n. 8, p. 1585, doi. 10.1007/s00415-011-6382-5
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- Article
Epidemiology and characteristics of occipital brain infarcts in young adults in southwestern Finland.
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- Journal of Neurology, 2010, v. 257, n. 2, p. 259, doi. 10.1007/s00415-009-5305-1
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- Article
Procollagen propeptides in chronic subdural hematoma reveal sustained dural collagen synthesis after head injury.
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- Journal of Neurology, 2009, v. 256, n. 1, p. 66, doi. 10.1007/s00415-009-0048-6
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- Article
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
Relative contribution of comorbid diseases to health-related quality of life in patients with Parkinson's disease.
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- Journal of Patient-Reported Outcomes, 2024, v. 8, n. 1, p. 1, doi. 10.1186/s41687-024-00746-4
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- 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
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
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
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
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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- 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
Comorbid epilepsy in Finnish patients with adult-onset Huntington's disease.
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- 2016
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- Publication type:
- journal article
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
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- BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29
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- Article
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.
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- 2008
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- Publication type:
- journal article
Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.
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- BMC Cardiovascular Disorders, 2002, v. 2, p. 12, doi. 10.1186/1471-2261-2-12
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- 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
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
Quantification of Upper Limb Movements in Patients with Hereditary or Idiopathic Ataxia.
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- Cerebellum, 2023, v. 22, n. 6, p. 1182, doi. 10.1007/s12311-022-01485-2
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- Article
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.
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- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 965, doi. 10.1038/sj.ejhg.5201438
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- 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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- 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
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
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
Comment regarding Hannula et al, 2011.
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- 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.
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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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- Publication type:
- Article
Lineage-Specific Selection in Human mtDNA: Lack of Polymorphisms in a Segment of MTND5 Gene in Haplogroup J.
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- 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.
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- Molecular Biology & Evolution, 2003, v. 20, n. 8, p. 1195, doi. 10.1093/molbev/msg121
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- 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