Works by Karin Naess

Results: 28

Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 8, p. 1595, doi. 10.1111/epi.14459

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal M. E.;
Brodtkorb, Eylert;
Fiskerstrand, Torunn;
Isohanni, Pirjo;
Uusimaa, Johanna;
Darin, Niklas;
Rahman, Shamima;
Bindoff, Laurence A.

Publication type:

Article

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.

Published in:

Biomedicines, 2022, v. 10, n. 12, p. 3171, doi. 10.3390/biomedicines10123171

By:

Vaz, Raquel;
Wincent, Josephine;
Elfissi, Najla;
Rosengren Forsblad, Kristina;
Pettersson, Maria;
Naess, Karin;
Wedell, Anna;
Wredenberg, Anna;
Lindstrand, Anna;
Ygberg, Sofia

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 897, doi. 10.1038/ejhg.2012.44

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 910, doi. 10.1038/ejhg.2012.123

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency.

Published in:

Acta Ophthalmologica (1755375X), 2012, v. 90, n. 1, p. 32, doi. 10.1111/j.1755-3768.2010.01865.x

By:

Fahnehjelm, Kristina Teär;
Olsson, Monica;
Naess, Karin;
Wiberg, Maria;
Ygge, Jan;
Martin, Lene;
von Döbeln, Ulrika

Publication type:

Article

Status epilepticus in POLG disease: a large multinational study.

Published in:

Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
de Coo, Irenaeus;
Pias-Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Majamaa, Kari;
Kärppä, Mikko;
Ortigoza-Escobar, Juan Dario;
Tangeraas, Trine;
Berland, Siren;
Harrison, Emma;
Biggs, Heather;
Horvath, Rita;
Darin, Niklas

Publication type:

Article

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

Published in:

Kidney Diseases, 2022, v. 8, n. 2, p. 148, doi. 10.1159/000521148

By:

Parasyri, Maria;
Brandström, Per;
Uusimaa, Johanna;
Ostergaard, Elsebet;
Hikmat, Omar;
Isohanni, Pirjo;
Naess, Karin;
de Coo, I.F.M.;
Nascimento Osorio, Andrés;
Nuutinen, Matti;
Lindberg, Christopher;
Bindoff, Laurence A.;
Tulinius, Már;
Darin, Niklas;
Sofou, Kalliopi

Publication type:

Article

Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 6, p. 841, doi. 10.1080/13816810.2022.2132515

By:

Nilsson, Mattias;
Kolagari, Hani Tavakoli;
Epstein, David;
Samolov, Branka;
Olsson, Monica;
Naess, Karin;
Oscarson, Mikael;
Teaer Fahnehjelm, Kristina

Publication type:

Article

Secondary metabolic effects in complex I deficiency.

Published in:

Annals of Neurology, 2005, v. 58, n. 4, p. 544

By:

Nayla Esteitie;
Reetta Hinttala;
Rolf Wibom;
Helene Nilsson;
Nicole Hance;
Karin Naess;
Kristina Teär‐Fahnehjelm;
Ulrika Von Döbeln;
Kari Majamaa;
Nils‐Göran Larsson

Publication type:

Article

Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.

Published in:

2023

By:

De Geer, Karl;
Mascianica, Katarzyna;
Naess, Karin;
Sardh, Eliane;
Lindstrand, Anna;
Björck, Erik

Publication type:

Case Study

Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT).

Published in:

Acta Paediatrica, 2008, v. 97, n. 8, p. 1108, doi. 10.1111/j.1651-2227.2008.00811.x

By:

Malm, Gunilla;
Gustafsson, Britt;
Berglund, Gunilla;
Lindström, Maria;
Naess, Karin;
Borgström, Birgit;
von Döbeln, Ulrika;
Ringdén, Olle

Publication type:

Article

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52

By:

Sofou, Kalliopi;
De Coo, Irenaeus F. M.;
Isohanni, Pirjo;
Ostergaard, Elsebet;
Naess, Karin;
Meirleir, Linda De;
Tzoulis, Charalampos;
Uusimaa, Johanna;
De Angst, Isabell B.;
Lönnqvist, Tuula;
Pihko, Helena;
Mankinen, Katariina;
Bindoff, Laurence A.;
Tulinius, Már;
Darin, Niklas

Publication type:

Article

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Published in:

2014

By:

Sofou, Kalliopi;
De Coo, Irenaeus F M;
Isohanni, Pirjo;
Ostergaard, Elsebet;
Naess, Karin;
De Meirleir, Linda;
Tzoulis, Charalampos;
Uusimaa, Johanna;
De Angst, Isabell B;
Lönnqvist, Tuula;
Pihko, Helena;
Mankinen, Katariina;
Bindoff, Laurence A;
Tulinius, Már;
Darin, Niklas

Publication type:

journal article

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 921, doi. 10.1186/1471-2164-15-1090

By:

Stranneheim, Henrik;
Engvall, Martin;
Naess, Karin;
Lesko, Nicole;
Larsson, Pontus;
Dahlberg, Mats;
Andeer, Robin;
Wredenberg, Anna;
Freyer, Chris;
Barbaro, Michela;
Bruhn, Helene;
Emahazion, Tesfail;
Magnusson, Måns;
Wibom, Rolf;
Zetterström, Rolf H.;
Wirta, Valtteri;
von Döbeln, Ulrika;
Wedell, Anna

Publication type:

Article

Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 248, doi. 10.1002/jimd.12463

By:

Savvidou, Antri;
Ivarsson, Liz;
Naess, Karin;
Eklund, Erik A.;
Lundgren, Johan;
Dahlin, Maria;
Frithiof, Deborah;
Sofou, Kalliopi;
Darin, Niklas

Publication type:

Article

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 726, doi. 10.1002/jimd.12211

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal ME;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
Coo, I. F. M;
Pias‐Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Darin, Niklas;
Rahman, Shamima;
Bindoff, Laurence A.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 243, doi. 10.1007/s10545-015-9894-9

By:

Carrozzo, Rosalba;
Verrigni, Daniela;
Rasmussen, Magnhild;
Coo, Rene;
Amartino, Hernan;
Bianchi, Marzia;
Buhas, Daniela;
Mesli, Samir;
Naess, Karin;
Born, Alfred;
Woldseth, Berit;
Prontera, Paolo;
Batbayli, Mustafa;
Ravn, Kirstine;
Joensen, Fróði;
Cordelli, Duccio;
Santorelli, Filippo;
Tulinius, Mar;
Darin, Niklas;
Duno, Morten

Publication type:

Article

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E728, doi. 10.1002/humu.21037

By:

Hoefs, Saskia J.G.;
Dieteren, Cindy E.J.;
Rodenburg, Richard J.;
Naess, Karin;
Bruhn, Helene;
Wibom, Rolf;
Wagena, Esther;
Willems, Peter H.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.;
van den Heuvel, Lambert P.

Publication type:

Article

Partial tetrasomy 14 associated with multiple malformations.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1284, doi. 10.1002/ajmg.a.35887

By:

Winberg, Johanna;
Lagerstedt Robinson, Kristina;
Naess, Karin;
Lesko, Nicole;
Wibom, Rolf;
Liedén, Agne;
Anderlid, Britt‐Marie;
Graff, Caroline;
Nordenskjöld, Agneta;
Nordgren, Ann;
Gustavsson, Peter

Publication type:

Article

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1357, doi. 10.1093/brain/awac330

By:

Mattison, Kari A;
Tossing, Gilles;
Mulroe, Fred;
Simmons, Callum;
Butler, Kameryn M;
Schreiber, Alison;
Alsadah, Adnan;
Neilson, Derek E;
Naess, Karin;
Wedell, Anna;
Wredenberg, Anna;
Sorlin, Arthur;
McCann, Emma;
Burghel, George J;
Menendez, Beatriz;
Hoganson, George E;
Botto, Lorenzo D;
Filloux, Francis M;
Aledo-Serrano, Ángel;
Gil-Nagel, Antonio

Publication type:

Article

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470

By:

Hikmat, Omar;
Isohanni, Pirjo;
Keshavan, Nandaki;
Ferla, Matteo P.;
Fassone, Elisa;
Abbott, Mary‐Alice;
Bellusci, Marcello;
Darin, Niklas;
Dimmock, David;
Ghezzi, Daniele;
Houlden, Henry;
Invernizzi, Federica;
Kamarus Jaman, Nazreen B.;
Kurian, Manju A.;
Morava, Eva;
Naess, Karin;
Ortigoza‐Escobar, Juan Darío;
Parikh, Sumit;
Pennisi, Alessandra;
Barcia, Giulia

Publication type:

Article

The impact of gender, puberty, and pregnancy in patients with POLG disease.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2019, doi. 10.1002/acn3.51199

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal M. E.;
Samsonsen, Christian;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
de Coo, Rene;
Pias‐Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Darin, Niklas;
Rahman, Shamima;
Bindoff, Laurence A.

Publication type:

Article

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1611838

By:

Bruhn, Helene;
Naess, Karin;
Ygberg, Sofia;
Peña-Pérez, Lucía;
Lesko, Nicole;
Wibom, Rolf;
Freyer, Christoph;
Stranneheim, Henrik;
Wedell, Anna;
Wredenberg, Anna

Publication type:

Article

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

Published in:

Human Mutation, 2021, v. 42, n. 4, p. 378, doi. 10.1002/humu.24173

By:

Correia, Sandrina P.;
Moedas, Marco F.;
Naess, Karin;
Bruhn, Helene;
Maffezzini, Camilla;
Calvo‐Garrido, Javier;
Lesko, Nicole;
Wibom, Rolf;
Schober, Florian A.;
Jemt, Anders;
Stranneheim, Henrik;
Freyer, Christoph;
Wedell, Anna;
Wredenberg, Anna

Publication type:

Article

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.654

By:

Maffezzini, Camilla;
Laine, Isabelle;
Dallabona, Cristina;
Clemente, Paula;
Calvo‐Garrido, Javier;
Wibom, Rolf;
Naess, Karin;
Barbaro, Michela;
Falk, Anna;
Donnini, Claudia;
Freyer, Christoph;
Wredenberg, Anna;
Wedell, Anna

Publication type:

Article

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2515, doi. 10.1093/hmg/ddx146

By:

Siibak, Triinu;
Clemente, Paula;
Bratic, Ana;
Bruhn, Helene;
Kauppila, Timo E. S.;
Macao, Bertil;
Schober, Florian A.;
Lesko, Nicole;
Wibom, Rolf;
Naess, Karin;
Nennesmo, Inger;
Wedell, Anna;
Peter, Bradley;
Freyer, Christoph;
Falkenberg, Maria;
Wredenberg, Anna

Publication type:

Article

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6580, doi. 10.1093/hmg/ddv361

By:

Gineste, Charlotte;
Hernandez, Andres;
Ivarsson, Niklas;
Cheng, Arthur J.;
Naess, Karin;
Wibom, Rolf;
Lesko, Nicole;
Bruhn, Helene;
Wedell, Anna;
Freyer, Christoph;
Shi-Jin Zhang;
Carlström, Mattias;
Lanner, Johanna T.;
Andersson, Daniel C.;
Bruton, Joseph D.;
Wredenberg, Anna;
Westerblad, Håkan

Publication type:

Article

Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants.

Published in:

2018

By:

Teär Fahnehjelm, Kristina;
Olsson, Monica;
Chen, Enping;
Hengstler, Jürg;
Naess, Karin;
Winiarski, Jacek

Publication type:

journal article