Karin Naess

Publications
CV
Public outreach and news

Articles

Article: JOURNAL OF PEDIATRICS. 2021;228:240-251.e2
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain
Naess K; Bruhn H; Stranneheim H; Freyer C; Wibom R; Mourier A; Engvall M; Nennesmo I; Lesko N; Wredenberg A; Wedell A; von Dobeln U
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2020;6(2):42
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
Sorensen L; von Dobeln U; Ahlman H; Ohlsson A; Engvall M; Naess K; Backman-Johansson C; Nordqvist Y; Wedell A; Zetterstrom RH
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27(6):919-927
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
Labrijn-Marks I; Somers-Bolman GM; Groen SLMI; Hoogeveen-Westerveld M; Kroos MA; Ala-Mello S; Amaral O; Miranda CS; Mavridou I; Michelakakis H; Naess K; Verheijen FW; Hoefsloot LH; Dijkhuizen T; Benjamins M; van den Hout HJM; van der Ploeg AT; Pijnappel WWMP; Saris JJ; Halley DJ
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e654
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Maffezzini C; Laine I; Dallabona C; Clemente P; Calvo-Garrido J; Wibom R; Naess K; Barbaro M; Falk A; Donnini C; Freyer C; Wredenberg A; Wedell A
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2018;107(11):1995-2003
Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants
Fahnehjelm KT; Olsson M; Chen E; Hengstler J; Naess K; Winiarski J
Article: EPILEPSIA. 2018;59(8):1595-1602
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications
Hikmat O; Naess K; Engvall M; Klingenberg C; Rasmussen M; Tallaksen CME; Brodtkorb E; Fiskerstrand T; Isohanni P; Uusimaa J; Darin N; Rahman S; Bindoff LA
Article: JOURNAL OF MEDICAL GENETICS. 2018;55(1):21-27
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Sofou K; de Coo IFM; Ostergaard E; Isohanni P; Naess K; De Meirleir L; Tzoulis C; Uusimaa J; Lonnqvist T; Bindoff LA; Tulinius M; Darin N
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2017;101(6):965-976
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
Falkenberg KD; Braverman NE; Moser AB; Steinberg SJ; Klouwer FCC; Schluter A; Ruiz M; Pujol A; Engvall M; Naess K; van Spronsen F; Korver-Keularts I; Rubio-Gozalbo ME; Ferdinandusse S; Wanders RJA; Waterham HR
Article: ANNALS OF NEUROLOGY. 2017;82(6):1004-1015
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Maas RR; Iwanicka-Pronicka K; Ucar SK; Alhaddad B; AlSayed M; Al-Owain MA; Al-Zaidan HI; Balasubramaniam S; Baric I; Bubshait DK; Burlina A; Christodoulou J; Chung WK; Colombo R; Darin N; Freisinger P; Garcia Silva MT; Grunewald S; Haack TB; van Hasselt PM; Hikmat O; Hoerster F; Isohanni P; Ramzan K; Kovacs-Nagy R; Krumina Z; Martin-Hernandez E; Mayr JA; McClean P; De Meirleir L; Naess K; Ngu LH; Pajdowska M; Rahman S; Riordan G; Riley L; Roeben B; Rutsch F; Santer R; Schiff M; Seders M; Sequeira S; Sperl W; Staufner C; Synofzik M; Taylor RW; Trubicka J; Tsiakas K; Unal O; Wassmer E; Wedatilake Y; Wolff T; Prokisch H; Morava E; Pronicka E; Wevers RA; de Brouwer AP; Wortmann SB
Article: HUMAN MOLECULAR GENETICS. 2017;26(13):2515-2525
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma
Siibak T; Clemente P; Bratic A; Bruhn H; Kauppila TES; Macao B; Schober FA; Lesko N; Wibom R; Naess K; Nennesmo I; Wedell A; Peter B; Freyer C; Falkenberg M; Wredenberg A
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2016;20(3):457-461
Biotin and Thiamine Responsive Basal Ganglia Disease - A vital differential diagnosis in infants with severe encephalopathy
Ygberg S; Naess K; Eriksson M; Stranneheim H; Lesko N; Barbaro M; Wibom R; Wang C; Wedell A; Wickstrom R
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2016;39(2):243-252
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Carrozzo R; Verrigni D; Rasmussen M; de Coo R; Amartino H; Bianchi M; Buhas D; Mesli S; Naess K; Born AP; Woldseth B; Prontera P; Batbayli M; Ravn K; Joensen F; Cordelli DM; Santorelli FM; Tulinius M; Darin N; Duno M; Jouvencel P; Burlina A; Stangoni G; Bertini E; Redonnet-Vernhet I; Wibrand F; Dionisi-Vici C; Uusimaa J; Vieira P; Nascimento Osorio A; McFarland R; Taylor RW; Holme E; Ostergaard E
Article: HUMAN MOLECULAR GENETICS. 2015;24(23):6580-6587
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy
Gineste C; Hernandez A; Ivarsson N; Cheng AJ; Naess K; Wibom R; Lesko N; Bruhn H; Wedell A; Freyer C; Zhang S-J; Carlstrom M; Lanner JT; Andersson DC; Bruton JD; Wredenberg A; Westerblad H
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;97(5):761-768
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Kishita Y; Pajak A; Bolar NA; Marobbio CMT; Maffezzini C; Miniero DV; Monne M; Kohda M; Stranneheim H; Murayama K; Naess K; Lesko N; Bruhn H; Mourier A; Wibom R; Nennesmo I; Jespers A; Goyaert P; Ohtake A; Van Laer L; Loeys BL; Freyer C; Palmieri F; Wredenberg A; Okazaki Y; Wedell A
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(11):779-783
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid
Freyer C; Stranneheim H; Naess K; Mourier A; Felser A; Maffezzini C; Lesko N; Bruhn H; Engvall M; Wibom R; Barbaro M; Hinze Y; Magnusson M; Andeer R; Zetterstrom RH; von Dobeln U; Wredenberg A; Wedell A
Article: NEUROPEDIATRICS. 2015;46(2):98-103
Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
Wortmann SB; van Hasselt PM; Baric I; Burlina A; Darin N; Hoerster F; Coker M; Ucar SK; Krumina Z; Naess K; Ngu LH; Pronicka E; Riordan G; Santer R; Wassmer E; Zschocke J; Schiff M; de Meirleir L; Alowain MA; Smeitink JAM; Morava E; Kozicz T; Wevers RA; Wolf NI; Willemsen MA
Article: BMC GENOMICS. 2014;15(1):1090
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
Stranneheim H; Engvall M; Naess K; Lesko N; Larsson P; Dahlberg M; Andeer R; Wredenberg A; Freyer C; Barbaro M; Bruhn H; Emahazion T; Magnusson M; Wibom R; Zetterstrom RH; Wirta V; von Dobeln U; Wedell A
Article: ORPHANET JOURNAL OF RARE DISEASES. 2014;9:52
A multicenter study on Leigh syndrome: disease course and predictors of survival
Sofou K; De Coo IFM; Isohanni P; Ostergaard E; Naess K; De Meirleir L; Tzoulis C; Uusimaa J; De Angst IB; Lonnqvist T; Pihko H; Mankinen K; Bindoff LA; Tulinius M; Darin N
Article: PEDIATRIC NEUROLOGY. 2013;49(1):31-39.e2
Cerebrospinal Fluid Brain Injury Biomarkers in Children: A Multicenter Study
Shahim P; Darin N; Andreasson U; Blennow K; Jennions E; Lundgren J; Mansson J-E; Naess K; Tornhage C-J; Zetterberg H; Mattsson N
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161A(6):1284-1290
Partial Tetrasomy 14 Associated With Multiple Malformations
Winberg J; Robinson KL; Naess K; Lesko N; Wibom R; Lieden A; Anderlid B-M; Graff C; Nordenskjoeld A; Nordgren A; Gustavsson P
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2012;20(8):897-904
Mutations in the mitochondrial tRNA^Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
Tuppen HAL; Naess K; Kennaway NG; Al-Dosary M; Lesko N; Yarham JW; Bruhn H; Wibom R; Nennesmo I; Weleber RG; Blakely EL; Taylor RW; McFarland R
Article: NATURE GENETICS. 2012;44(7):797-802
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Wortmann SB; Vaz FM; Gardeitchik T; Vissers LELM; Renkema GH; Schuurs-Hoeijmakers JHM; Kulik W; Lammens M; Christin C; Kluijtmans LAJ; Rodenburg RJ; Nijtmans LGJ; Gruenewald A; Klein C; Gerhold JM; Kozicz T; van Hasselt PM; Harakalova M; Kloosterman W; Baric I; Pronicka E; Ucar SK; Naess K; Singhal KK; Krumina Z; Gilissen C; van Bokhoven H; Veltman JA; Smeitink JAM; Lefeber DJ; Spelbrink JN; Wevers RA; Morava E; de Brouwer APM
Article: ACTA OPHTHALMOLOGICA. 2012;90(1):32-43
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency
Fahnehjelm KT; Olsson M; Naess K; Wiberg M; Ygge J; Martin L; von Dobeln U
Article: JIMD REPORTS. 2012;4:67-73
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.
Naess K; Barbaro M; Bruhn H; Wibom R; Nennesmo I; von Döbeln U; Larsson N-G; Nemeth A; Lesko N
Article: NEUROMUSCULAR DISORDERS. 2010;20(3):198-203
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion
Lesko N; Naess K; Wibom R; Solaroli N; Nennesmo I; von Doebeln U; Karlsson A; Larsson N-G
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2009;361(5):489-495
AGC1 Deficiency Associated with Global Cerebral Hypomyelination
Wibom R; Lasorsa FM; Tohonen V; Barbaro M; Sterky FH; Kucinski T; Naess K; Jonsson M; Pierri CL; Palmieri F; Wedell A
Article: HUMAN MUTATION. 2009;30(7):E728-E736
Baculovirus Complementation Restores a Novel NDUFAF2 Mutation Causing Complex I Deficiency
Hoefs SJG; Dieteren CEJ; Rodenburg RJ; Naess K; Bruhn H; Wibom R; Wagena E; Willems PH; Smeitink JAM; Nijtmans LG; van den Heuvel LP
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2008;97(8):1108-1112
Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT)
Malm G; Gustafsson B; Berglund G; Lindstrom M; Naess K; Borgstrom B; von Dobeln U; Ringden O
Article: ANNALS OF NEUROLOGY. 2005;58(4):544-552
Secondary metabolic effects in complex I deficiency
Esteitie N; Hinttala R; Wibom R; Nilsson H; Hance N; Naess K; Teär-Fahnehjelm K; von Döbeln U; Majamaa K; Larsson NG
Show more

All other publications

Thesis / dissertation: 2016
Mitochondrial disease in children : from clinical presentation to genetic background
Naess, Karin
Published conference paper: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2009;1787(5):484-490
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome
Naess K; Freyer C; Bruhn H; Wibom R; Malm G; Nennesmo I; von Dobeln U; Larsson N-G
Review: LAKARTIDNINGEN. 2008;105(51-52):3731-3735
[Progress on lysosomal diseases yields hope for cure and improvement].
Malm G; von Döbeln U; Naess K; Ringdén O

Employments

Affiliated to Research, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 2023-2025

Degrees and Education

Degree Of Doctor Of Philosophy, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 2017

Articles

All other publications

Employments

Degrees and Education

News from KI

Events from KI