Karin Naess

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

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. 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. 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
Visa fler

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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

Anställningar

Anknuten till Forskning, Medicinsk biokemi och biofysik, Karolinska Institutet, 2023-2025

Examina och utbildning

Medicine Doktorsexamen, Institutionen för medicinsk biokemi och biofysik, Karolinska Institutet, 2017

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