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List of works by Karin Naess

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

scientific article published on 27 May 2020

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

scientific article published on 2 February 2015

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

scientific article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

scientific article published on 19 July 2012

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

scientific article published on 2 December 2017

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

scientific article

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