List of works - Laura Kytövuori

A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment

scientific article published on 28 September 2017

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

scientific article

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

scientific article published on 8 August 2016

Analysis of functional variants in mitochondrial DNA of Finnish athletes

scientific article published on 29 October 2019

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

scientific article published on 10 January 2022

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

scientific article

Effects of pathogenic mutations in membrane subunits of mitochondrial Complex I on redox activity and proton translocation studied by modeling in Escherichia coli

scientific article published on 5 March 2015

Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis

scientific article published on 11 December 2019

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

scientific article published on 31 May 2019

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

scientific article published on 16 August 2017

Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration

scientific article published on 01 January 2019

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

article

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.

scientific article published on 27 January 2014

The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.

scientific article published on 19 November 2017

WFS1 mutations in hearing-impaired children.

scientific article published on 10 March 2014

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

scientific article published on 18 April 2013

List of works by Laura Kytövuori