Found: 16
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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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- 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
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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- 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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- 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
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- 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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- 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
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
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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- 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
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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- 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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- Article
Molecular epidemiology of hereditary ataxia in Finland.
- Published in:
- 2021
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- Publication type:
- journal article
Analysis of functional variants in mitochondrial DNA of Finnish athletes.
- Published in:
- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6171-6
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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
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
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- Publication type:
- Article