Nicole Lesko

Article: HUMAN MUTATION. 2022;43(6):708-716

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.

Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H

Article: HUMAN MUTATION. 2021;42(4):378-384

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

Correia SP; Moedas MF; Naess K; Bruhn H; Maffezzini C; Calvo-Garrido J; Lesko N; Wibom R; Schober FA; Jemt A; Stranneheim H; Freyer C; Wedell A; Wredenberg A

Article: NEUROLOGY-GENETICS. 2021;7(2):e566

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.

Bruhn H; Samuelsson K; Schober FA; Engvall M; Lesko N; Wibom R; Nennesmo I; Calvo-Garrido J; Press R; Stranneheim H; Freyer C; Wedell A; Wredenberg A

Article: GENOME MEDICINE. 2021;13(1):40

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A

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 Döbeln U

Article: FRONTIERS IN NEUROLOGY. 2021;12:652590

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).

Engvall M; Kawasaki A; Carelli V; Wibom R; Bruhn H; Lesko N; Schober FA; Wredenberg A; Wedell A; Träisk F

Article: NEUROLOGY-GENETICS. 2020;6(4):e478

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.

Stödberg T; Magnusson M; Lesko N; Wredenberg A; Martin Munoz D; Stranneheim H; Wedell A

Article: STEM CELL REPORTS. 2019;12(4):696-711

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.

Calvo-Garrido J; Maffezzini C; Schober FA; Clemente P; Uhlin E; Kele M; Stranneheim H; Lesko N; Bruhn H; Svenningsson P; Falk A; Wedell A; Freyer C; Wredenberg A

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: ORPHANET JOURNAL OF RARE DISEASES. 2017;12(1):73

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Tegelberg S; Tomašić N; Kallijärvi J; Purhonen J; Elmér E; Lindberg E; Nord DG; Soller M; Lesko N; Wedell A; Bruhn H; Freyer C; Stranneheim H; Wibom R; Nennesmo I; Wredenberg A; Eklund EA; Fellman V

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; Wickström R

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; Carlström 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; Monné M; Kohda M; Stranneheim H; Murayama K; Naess K; Lesko N; Bruhn H; Mourier A; Wibom R; Nennesmo I; Jespers A; Govaert 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; Zetterström RH; von Döbeln U; Wredenberg A; Wedell A

Article: NATURE COMMUNICATIONS. 2015;6:8038

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

Stödberg T; McTague A; Ruiz AJ; Hirata H; Zhen J; Long P; Farabella I; Meyer E; Kawahara A; Vassallo G; Stivaros SM; Bjursell MK; Stranneheim H; Tigerschiöld S; Persson B; Bangash I; Das K; Hughes D; Lesko N; Lundeberg J; Scott RC; Poduri A; Scheffer IE; Smith H; Gissen P; Schorge S; Reith MEA; Topf M; Kullmann DM; Harvey RJ; Wedell A; Kurian 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; Zetterström RH; Wirta V; von Döbeln U; Wedell A

Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(6):1284-1290

Partial tetrasomy 14 associated with multiple malformations.

Winberg J; Lagerstedt Robinson K; Naess K; Lesko N; Wibom R; Liedén A; Anderlid B-M; Graff C; Nordenskjöld 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: 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: AMERICAN JOURNAL OF HUMAN GENETICS. 2011;89(4):507-515

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Bjursell MK; Blom HJ; Cayuela JA; Engvall ML; Lesko N; Balasubramaniam S; Brandberg G; Halldin M; Falkenberg M; Jakobs C; Smith D; Struys E; von Döbeln U; Gustafsson CM; Lundeberg J; Wedell A

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 Döbeln U; Karlsson A; Larsson N-G

Article: NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS. 2010;29(1):1-13

Retained sensitivity to cytotoxic pyrimidine nucleoside analogs in thymidine kinase 2 deficient human fibroblasts.

Bjerke M; Solaroli N; Lesko N; Balzarini J; Johansson M; Karlsson A

Article: CELL METABOLISM. 2009;9(4):386-397

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome.

Metodiev MD; Lesko N; Park CB; Cámara Y; Shi Y; Wibom R; Hultenby K; Gustafsson CM; Larsson N-G

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 N-G

Article: HUMAN MOLECULAR GENETICS. 2005;14(13):1775-1783

Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis.

Hance N; Ekstrand MI; Trifunovic A

Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2004;101(9):3136-3141

A switch in metabolism precedes increased mitochondrial biogenesis in respiratory chain-deficient mouse hearts.

Hansson A; Hance N; Dufour E; Rantanen A; Hultenby K; Clayton DA; Wibom R; Larsson N-G

Article: GENETICS. 2000;154(1):363-380

Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA.

Lehtinen SK; Hance N; El Meziane A; Juhola MK; Juhola KM; Karhu R; Spelbrink JN; Holt IJ; Jacobs HT

Article: NATURE GENETICS. 1998;18(4):350-353

A tRNA suppressor mutation in human mitochondria.

El Meziane A; Lehtinen SK; Hance N; Nijtmans LG; Dunbar D; Holt IJ; Jacobs HT

Article: BIOCHEMICAL PHARMACOLOGY. 1998;55(4):397-403

Antiproliferative action of pyrrolobenzoxazepine derivatives in cultured cells: absence of correlation with binding to the peripheral-type benzodiazepine binding site.

Zisterer DM; Hance N; Campiani G; Garofalo A; Nacci V; Williams DC

Visa fler

Artiklar

Nyheter från KI

Kalenderhändelser från KI