Helene Bruhn

Publikationer
Populärvetenskap och samverkan

Artiklar

Article: HUMAN MUTATION. 2024;2024:1-16

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

Bruhn H; Naess K; Ygberg S; Pena-Perez L; Lesko N; Wibom R; Freyer C; Stranneheim H; Wedell A; Wredenberg A
Article: NEUROLOGY-GENETICS. 2023;9(6):e200100

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

Ben-Shabat I; Kvarnung M; Sperker W; Bruhn H; Wredenberg A; Wibom R; Nennesmo I; Engvall M; Paucar M
Article: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 2023;1869(7):166786

The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POL?-related diseases

Erdinc D; Macao B; Valenzuela S; Lesko N; Naess K; Peter B; Bruhn H; Wedell A; Wredenberg A; Falkenberg M
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; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
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; Traisk F
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: 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; Tomasic N; Kallijarvi J; Purhonen J; Elmer 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: JIMD REPORTS. 2017;34:19-26

The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

Ohlsson A; Bruhn H; Nordenström A; Zetterström RH; Wedell A; von Döbeln U
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: 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: 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 MEDICAL GENETICS PART A. 2011;155A(6):1298-1313

Identification of p.A684V Missense Mutation in the WFS1 Gene as a Frequent Cause of Autosomal Dominant Optic Atrophy and Hearing Impairment

Rendtorff ND; Lodahl M; Boulahbel H; Johansen IR; Pandya A; Welch KO; Norris VW; Arnos KS; Bitner-Glindzicz M; Emery SB; Mets MB; Fagerheim T; Eriksson K; Hansen L; Bruhn H; Moller C; Lindholm S; Ensgaard S; Lesperance MM; Tranebjaerg L
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: 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
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53

Integration of genome sequencing into health care - experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities

Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Kvarnung M; Lesko N; Nilsson D; Anderlid B; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Engvall M; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Jemt A; Laaksonen M; Enoksson SL; Magnusson M; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Stodberg T; Tesi B; Tham E; Thonberg H; von Dobeln U; Vonlanthen S; Wikstrom A; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Johansson-Soller M; Soller MJ; Nordgren A; Wirta V; Wedell A
Conference publication: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2013;18:101

MITOCHONDRIAL DISEASE CAUSING SENSORIMOTOR AXONAL POLYNEUROPATHY: A NOVEL MUTATION IN THE MTND3 GENE

Samuelsson K; Engvall M; Bruhn H; Lesko N; Wibom R; Nennesmo I; Press R
Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2012;20(8):910

Mutations in the mitochondrial tRNA^Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (vol 20, pg 897, 2012)

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
Conference publication: JOURNAL OF INHERITED METABOLIC DISEASE. 2010;33:S83

A DELETION IN THE POLG1 GENE CAUSING ALPERS SYNDROME

Naess K; Barbaro M; Bruhn H; Wibom R; Nennesmo I; von Dobeln U; Larsson N-G; Nemeth A; Lesko N
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
Letter: MOVEMENT DISORDERS. 2008;23(8):1191-1192

Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report

Teive HAG; Munhoz RP; Muzzio JA; Scola RH; Kay CK; Raskin S; Werneck LC; Bruhn H
Conference publication: JOURNAL OF INHERITED METABOLIC DISEASE. 2007;30:77

Clinical study:: Characterisation of patients with Leigh syndrome

Naess K; Wibom R; Bruhn H; von Dobeln U; Larsson NG

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