Found: 92
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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
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
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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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1205, doi. 10.1007/s10545-011-9338-0
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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
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
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- 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
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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
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
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
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
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
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
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- Publication type:
- Article
Genome Wide Assessment of Young Onset Parkinson's Disease from Finland.
- Published in:
- 2012
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- 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
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
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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
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
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.
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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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- 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
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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- 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
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 mutations in hearing-impaired children.
- Published in:
- International Journal of Audiology, 2014, v. 53, n. 7, p. 446, doi. 10.3109/14992027.2014.887230
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- Publication type:
- Article
Ear diseases and other risk factors for hearing impairment among adults: An epidemiological study.
- Published in:
- International Journal of Audiology, 2012, v. 51, n. 11, p. 833, doi. 10.3109/14992027.2012.707334
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- Publication type:
- Article
Audiogram configurations among older adults: Prevalence and relation to self-reported hearing problems.
- Published in:
- International Journal of Audiology, 2011, v. 50, n. 11, p. 793, doi. 10.3109/14992027.2011.593562
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- Publication type:
- Article
Hearing in a 54- to 66-year-old population in northern Finland.
- Published in:
- International Journal of Audiology, 2010, v. 49, n. 12, p. 920, doi. 10.3109/14992027.2010.510146
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- Publication type:
- Article
Quantification of Upper Limb Movements in Patients with Hereditary or Idiopathic Ataxia.
- Published in:
- Cerebellum, 2023, v. 22, n. 6, p. 1182, doi. 10.1007/s12311-022-01485-2
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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
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
- 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
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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
- 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
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- Publication type:
- Article