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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
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
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
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
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
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
Molecular epidemiology of hereditary ataxia in Finland.
- Published in:
- 2021
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- Publication type:
- journal 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
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
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
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
Audiological Follow-Up of Children with the m.1555A>G Mutation in Mitochondrial DNA.
- Published in:
- Audiology & Neurotology, 2012, v. 18, n. 1, p. 23, doi. 10.1159/000342905
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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
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
Craniofacial Morphology in Children of Mothers With the m.3243A>G Mutation in Mitochondrial DNA.
- Published in:
- Cleft Palate Craniofacial Journal, 2010, v. 47, n. 3, p. 234, doi. 10.1597/08-131.1
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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
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
Comorbid epilepsy in Finnish patients with adult-onset Huntington's disease.
- Published in:
- 2016
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- 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
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- Publication type:
- Article
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.
- Published in:
- 2008
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- Publication type:
- journal article
Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.
- Published in:
- BMC Cardiovascular Disorders, 2002, v. 2, p. 12, doi. 10.1186/1471-2261-2-12
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- Publication type:
- 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
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- 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
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- 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
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- 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
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- 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
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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
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
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
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.
- Published in:
- 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
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
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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
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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- 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
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
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- 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
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