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Incidence and prevalence of mtDNA-related adult mitochondrial disease in Southwest Finland, 2009–2022: an observational, population-based study

BMJ neurology open, 2024-02, Vol.6 (1), p.e000546-e000546

2024

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Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report

BMC neurology, 2022-12, Vol.22 (1), p.487-487, Article 487

2022

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Association of mitochondrial DNA haplogroups J and K with low response in exercise training among Finnish military conscripts

BMC genomics, 2021-01, Vol.22 (1), p.75-75, Article 75

2021

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Genetics of early onset Parkinson’s disease in Finland: exome sequencing and genome-wide association study

Neurobiology of aging, 2017-05, Vol.53, p.195.e7-195.e10

2017

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Biallelic expansion in RFC1 as a rare cause of Parkinson's disease

NPJ Parkinson's Disease, 2022-01, Vol.8 (1), p.6-6, Article 6

2022

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Analysis of functional variants in mitochondrial DNA of Finnish athletes

BMC genomics, 2019-10, Vol.20 (1), p.784-784, Article 784

2019

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Molecular epidemiology of hereditary ataxia in Finland

BMC neurology, 2021-10, Vol.21 (1), p.1-382, Article 382

2021

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Stable low prevalence of Huntington’s disease in Finland

Clinical parkinsonism & related disorders, 2023-01, Vol.8, p.100198-100198, Article 100198

2023

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Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype

BMC neurology, 2018-09, Vol.18 (1), p.149-149, Article 149

2018

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Relative contribution of comorbid diseases to health-related quality of life in patients with Parkinson’s disease

Journal of patient-reported outcomes, 2024-08, Vol.8 (1), p.84-8, Article 84

2024

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Mitochondrial DNA variation in sudden cardiac death: a population-based study

International journal of legal medicine, 2020-01, Vol.134 (1), p.39-44

2020

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Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study

Neuroepidemiology, 2017-01, Vol.49 (1-2), p.34-39

2017

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Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population

Acta neuropathologica communications, 2020-11, Vol.8 (1), p.187-187, Article 187

2020

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Distribution of collagen XVII in the human brain

Brain research, 2007-07, Vol.1158, p.50-56

2007

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A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene

NPJ Parkinson's Disease, 2023-04, Vol.9 (1), p.53-53, Article 53

2023

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Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

The Lancet (British edition), 2004-09, Vol.364 (9437), p.875-882

2004

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Association between mitochondrial DNA haplogroups J and K, serum branched-chain amino acids and lowered capability for endurance exercise

BMC sports science, medicine & rehabilitation, 2022-05, Vol.14 (1), p.95-95, Article 95

2022

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Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

Annals of neurology, 2007-09, Vol.62 (3), p.278-287

2007

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Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

BMC neurology, 2017-05, Vol.17 (1), p.96-96, Article 96

2017

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The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event

American journal of human genetics, 2006-03, Vol.78 (3), p.487-497

2006

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Epidemiology of A3243G, the Mutation for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes: Prevalence of the Mutation in an Adult Population

American journal of human genetics, 1998-08, Vol.63 (2), p.447-454

1998

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Genome wide assessment of young onset Parkinson's disease from Finland

PloS one, 2012-07, Vol.7 (7), p.e41859-e41859

2012

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m.3243A>G Mutation in Mitochondrial DNA Leads to Decreased Insulin Sensitivity in Skeletal Muscle and to Progressive β-Cell Dysfunction

Diabetes (New York, N.Y.), 2009-03, Vol.58 (3), p.543-549

2009

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WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims

Journal of human genetics, 2013-08, Vol.58 (8), p.495-500

2013

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WFS1 mutations in hearing-impaired children

International journal of audiology, 2014-07, Vol.53 (7), p.446-451

2014

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Incidence and prevalence of mtDNA-related adult mitochondrial disease in Southwest Finland, 2009–2022: an observational, population-based study

Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report

Association of mitochondrial DNA haplogroups J and K with low response in exercise training among Finnish military conscripts

Genetics of early onset Parkinson’s disease in Finland: exome sequencing and genome-wide association study

Biallelic expansion in RFC1 as a rare cause of Parkinson's disease

Analysis of functional variants in mitochondrial DNA of Finnish athletes

Molecular epidemiology of hereditary ataxia in Finland

Stable low prevalence of Huntington’s disease in Finland

Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype

Relative contribution of comorbid diseases to health-related quality of life in patients with Parkinson’s disease

Mitochondrial DNA variation in sudden cardiac death: a population-based study

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population

Distribution of collagen XVII in the human brain

A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Association between mitochondrial DNA haplogroups J and K, serum branched-chain amino acids and lowered capability for endurance exercise

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event

Epidemiology of A3243G, the Mutation for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes: Prevalence of the Mutation in an Adult Population

Genome wide assessment of young onset Parkinson's disease from Finland

m.3243A>G Mutation in Mitochondrial DNA Leads to Decreased Insulin Sensitivity in Skeletal Muscle and to Progressive β-Cell Dysfunction

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims

WFS1 mutations in hearing-impaired children

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