Found: 87
Select item for more details and to access through your institution.
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
- By:
- Publication type:
- Article
Molecular epidemiology of hereditary ataxia in Finland.
- Published in:
- 2021
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 67, doi. 10.1007/s10545-015-9865-1
- By:
- Publication type:
- Article
Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1205, doi. 10.1007/s10545-011-9338-0
- By:
- 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
- By:
- Publication type:
- Article
Association of mitochondrial DNA haplogroups and vascular complications of diabetes mellitus: A population-based study.
- Published in:
- Diabetes & Vascular Disease Research, 2015, v. 12, n. 4, p. 302, doi. 10.1177/1479164115579007
- By:
- 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
- By:
- Publication type:
- Article
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1038, doi. 10.1111/j.1528-1167.2008.01544.x
- By:
- Publication type:
- Article
Comorbid epilepsy in Finnish patients with adult-onset Huntington's disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
- Published in:
- BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29
- By:
- Publication type:
- Article
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.
- Published in:
- 2008
- By:
- Publication type:
- journal article
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.
- Published in:
- Case Reports in Neurological Medicine, 2012, p. 1, doi. 10.1155/2012/615721
- By:
- 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
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
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
- By:
- Publication type:
- Article
Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0145-6
- By:
- Publication type:
- Article
Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-73
- By:
- Publication type:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Mitochondrial DNA variation in sudden cardiac death: a population-based study.
- Published in:
- International Journal of Legal Medicine, 2020, v. 134, n. 1, p. 39, doi. 10.1007/s00414-019-02091-4
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Psychiatric and neurological disorders are associated with bullous pemphigoid - a nationwide Finnish Care Register study.
- Published in:
- Scientific Reports, 2016, p. 37125, doi. 10.1038/srep37125
- By:
- 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
- By:
- Publication type:
- Article
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568
- By:
- 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
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- journal article
Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 12, p. 3274, doi. 10.1093/brain/awp259
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Secondary metabolic effects in complex I deficiency.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 544
- By:
- Publication type:
- Article