Rolf Wibom

Publications
Public outreach and news

Articles

Article: NATURE METABOLISM. 2024;6(6):1024-1035
Inhibition of mammalian mtDNA transcription acts paradoxically to reverse diet-induced hepatosteatosis and obesity
Jiang S; Yuan T; Rosenberger FA; Mourier A; Dragano NRV; Kremer LS; Rubalcava-Gracia D; Hansen FM; Borg M; Mennuni M; Filograna R; Alsina D; Misic J; Koolmeister C; Papadea P; de Angelis MH; Ren L; Andersson O; Unger A; Bergbrede T; Di Lucrezia R; Wibom R; Zierath JR; Krook A; Giavalisco P; Mann M; Larsson N-G
Article: NPJ PARKINSONS DISEASE. 2024;10(1):93
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues
Filograna R; Gerlach J; Choi H-N; Rigoni G; Barbaro M; Oscarson M; Lee S; Tiklova K; Ringner M; Koolmeister C; Wibom R; Riggare S; Nennesmo I; Perlmann T; Wredenberg A; Wedell A; Motori E; Svenningsson P; Larsson N-G
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: NATURE COMMUNICATIONS. 2023;14(1):30
Human mitochondria require mtRF1 for translation termination at non-canonical stop codons
Kruger A; Remes C; Shiriaev DI; Liu Y; Spahr H; Wibom R; Atanassov I; Nguyen MD; Cooperman BS; Rorbach J
Article: NATURE COMMUNICATIONS. 2022;13(1):5750
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing
Clemente P; Calvo-Garrido J; Pearce SF; Schober FA; Shigematsu M; Siira SJ; Laine I; Spahr H; Steinmetzger C; Petzold K; Kirino Y; Wibom R; Rackham O; Filipovska A; Rorbach J; Freyer C; Wredenberg A
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: SCIENCE ADVANCES. 2021;7(8):eabf0717
The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters
Schober FA; Moore D; Atanassov I; Moedas MF; Clemente P; Vegvari A; El Fissi N; Filograna R; Bucher A-L; Hinze Y; The M; Hedman E; Chernogubova E; Begzati A; Wibom R; Jain M; Nilsson R; Kall L; Wedell A; Freyer C; Wredenberg 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: PLOS GENETICS. 2019;15(7):e1008240
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo
Pajak A; Laine I; Clemente P; El-Fissi N; Schober FA; Maffezzini C; Calvo-Garrido J; Wibom R; Filograna R; Dhir A; Wedell A; Freyer C; Wredenberg A
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: EMBO REPORTS. 2019;20(6):e48101
TEFM regulates both transcription elongation and RNA processing in mitochondria
Jiang S; Koolmeister C; Misic J; Siira S; Kuehl I; Ramos ES; Miranda M; Jiang M; Posse V; Lytovchenko O; Atanassov I; Schober FA; Wibom R; Hultenby K; Milenkovic D; Gustafsson CM; Filipovska A; Larsson N-G
Article: SCIENCE ADVANCES. 2019;5(4):eaav9824
Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse
Filograna R; Koolmeister C; Upadhyay M; Pajak A; Clemente P; Wibom R; Simard ML; Wredenberg A; Freyer C; Stewart JB; Larsson NG
Article: HUMAN MOLECULAR GENETICS. 2017;26(21):4181-4189
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells
Aradjanski M; Dogan SA; Lotter S; Wang S; Hermans S; Wibom R; Rugarli E; Trifunovic 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: JOURNAL OF ENDOCRINOLOGY. 2017;233(1):15-24
Reduced metabolism in the hypothalamus of the anorectic anx/anx mouse
Bergstrom U; Lindfors C; Svedberg M; Johansen JE; Haggkvist J; Schalling M; Wibom R; Katz A; Nilsson IAK
Article: EMBO JOURNAL. 2016;35(23):2566-2583
CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels
Szczepanowska K; Maiti P; Kukat A; Hofsetz E; Nolte H; Senft K; Becker C; Ruzzenente B; Hornig-Do H-T; Wibom R; Wiesner RJ; Krueger M; Trifunovic A
Article: PLOS GENETICS. 2016;12(5):e1006028
Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation
Bratic A; Clemente P; Calvo-Garrido J; Maffezzini C; Felser A; Wibom R; Wedell A; Freyer C; 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: 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: NUCLEIC ACIDS RESEARCH. 2015;43(15):7398-7413
SUV3 helicase is required for correct processing of mitochondrial transcripts
Clemente P; Pajak A; Laine I; Wibom R; Wedell A; Freyer C; Wredenberg 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: PLOS GENETICS. 2014;10(6):e1004385
Loss of UCP2 Attenuates Mitochondrial Dysfunction without Altering ROS Production and Uncoupling Activity
Kukat A; Dogan SA; Edgar D; Mourier A; Jacoby C; Maiti P; Mauer J; Becker C; Senft K; Wibom R; Kudin AP; Hultenby K; Floegel U; Rosenkranz S; Ricquier D; Kunz WS; Trifunovic A
Article: CELL METABOLISM. 2014;19(3):458-469
Tissue-Specific Loss of DARS2 Activates Stress Responses Independently of Respiratory Chain Deficiency in the Heart
Dogan SA; Pujol C; Maiti P; Kukat A; Wang S; Hermans S; Senft K; Wibom R; Rugarli EI; Trifunovic A
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: CELL METABOLISM. 2013;17(4):618-626
MTERF1 Binds mtDNA to Prevent Transcriptional Interference at the Light-Strand Promoter but Is Dispensable for rRNA Gene Transcription Regulation
Terzioglu M; Ruzzenente B; Harmel J; Mourier A; Jemt E; Lopez MD; Kukat C; Stewart JB; Wibom R; Meharg C; Habermann B; Falkenberg M; Gustafsson CM; Park CB; Larsson N-G
Article: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 2013;73(2):154-160
Differences in acute metabolism of fructose between hemodialysis patients and healthy subjects
Anderstam B; Bragfors-Helin A-C; Axelsson J; Qureshi AR; Wibom R; Lindholm B; Stenvinkel P
Article: PLOS GENETICS. 2013;9(1):e1003178
MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals
Wredenberg A; Lagouge M; Bratic A; Metodiev MD; Spahr H; Mourier A; Freyer C; Ruzzenente B; Tain L; Groenke S; Baggio F; Kukat C; Kremmer E; Wibom R; Polosa PL; Habermann B; Partridge L; Park CB; Larsson N-G
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: HUMAN MOLECULAR GENETICS. 2012;21(5):1078-1089
Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons
Sterky FH; Hoffman AF; Milenkovic D; Bao B; Paganelli A; Edgar D; Wibom R; Lupica CR; Olson L; Larsson N-G
Article: EMBO JOURNAL. 2012;31(2):443-456
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs
Ruzzenente B; Metodiev MD; Wredenberg A; Bratic A; Park CB; Camara Y; Milenkovic D; Zickermann V; Wibom R; Hultenby K; Erdjument-Bromage H; Tempst P; Brandt U; Stewart JB; Gustafsson CM; Larsson N-G
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: PLOS GENETICS. 2011;7(10):e1002324
The Bicoid Stability Factor Controls Polyadenylation and Expression of Specific Mitochondrial mRNAs in Drosophila melanogaster
Bratic A; Wredenberg A; Groenke S; Stewart JB; Mourier A; Ruzzenente B; Kukat C; Wibom R; Habermann B; Partridge L; Larsson N-G
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2011;108(31):12937-12942
Impaired mitochondrial transport and Parkin-independent degeneration of respiratory chain-deficient dopamine neurons in vivo
Sterky FH; Lee S; Wibom R; Olson L; Larsson N-G
Article: CELL METABOLISM. 2011;13(5):527-539
MTERF4 Regulates Translation by Targeting the Methyltransferase NSUN4 to the Mammalian Mitochondrial Ribosome
Camara Y; Asin-Cayuela J; Park CB; Metodiev MB; Shi Y; Ruzzenente B; Kukat C; Habermann B; Wibom R; Hultenby K; Franz T; Erdjument-Bromage H; Tempst P; Hallberg BM; Gustafsson CM; Larsson N-G
Article: NUCLEIC ACIDS RESEARCH. 2010;38(19):6577-6588
Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription
Freyer C; Park CB; Ekstrand MI; Shi Y; Khvorostova J; Wibom R; Falkenberg M; Gustafsson CM; Larsson N-G
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: JOURNAL OF BIOLOGICAL CHEMISTRY. 2009;284(47):32395-32404
Tight Coupling between Glucose and Mitochondrial Metabolism in Clonal β-Cells Is Required for Robust Insulin Secretion
Malmgren S; Nicholls DG; Taneera J; Bacos K; Koeck T; Tamaddon A; Wibom R; Groop L; Ling C; Mulder H; Sharoyko VV
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: PLOS GENETICS. 2009;5(5):e1000499
Sensory Ataxic Neuropathy in Golden Retriever Dogs Is Caused by a Deletion in the Mitochondrial tRNA^Tyr Gene
Baranowska I; Jaderlund KH; Nennesmo I; Holmqvist E; Heidrich N; Larsson N-G; Andersson G; Wagner EGH; Hedhammar A; Wibom R; Andersson L
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; Camara Y; Shi Y; Wibom R; Hultenby K; Gustafsson CM; Larsson N-G
Article: CELL. 2007;130(2):273-285
MTERF3 is a negative regulator of mammalian mtDNA transcription
Park CB; Asin-Cayuela J; Camara Y; Shi Y; Pellegrini M; Gaspari M; Wibom R; Hultenby K; Erdjument-Bromage H; Tempst P; Falkenberg M; Gustafsson CM; Larsson N-G
Article: DIABETES. 2007;56(4):1136-1142
Effects of palmitate on Ca²⁺ handling in adult control and ob/ob cardiomyocytes
Fauconnier J; Andersson DC; Zhang S-J; Lanner JT; Wibom R; Katz A; Bruton JD; Westerblad H
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2006;350(1):202-207
Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance
Wredenberg A; Freyer C; Sandstrom ME; Katz A; Wibom R; Westerblad H; Larsson N-G
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2005;280(50):41366-41372
The structural and functional role of Med5 in the yeast mediator tail module
Béve J; Hu GZ; Myers LC; Balciunas D; Werngren O; Hultenby K; Wibom R; Ronne H; Gustafsson CM
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2005;102(50):17993-17998
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production
Trifunovic A; Hansson A; Wredenberg A; Rovio AT; Dufour E; Khvorostov I; Spelbrink JN; Wibom R; Jacobs HT; Larsson NG
Article: EMBO JOURNAL. 2005;24(23):4061-4070
SOD2 overexpression: enhanced mitochondrial tolerance but absence of effect on UCP activity
Silva JP; Shabalina IG; Dufour E; Petrovic N; Backlund EC; Hultenby K; Wibom R; Nedergaard J; Cannon B; Larsson NG
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
Article: BLOOD. 2005;106(1):247-253
Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes
Tehranchi R; Invernizzi R; Grandien A; Zhivotovsky B; Fadeel B; Forsblom AM; Travaglino E; Samuelsson J; Hast R; Nilsson L; Cazzola M; Wibom R; Hellström-Lindberg E
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2005;90(2):1189-1195
Marked reutilization of free fatty acids during activated lipolysis in human skeletal muscle
Enoksson S; Hagström-Toft E; Nordahl J; Hultenby K; Pettersson N; Isaksson B; Permert J; Wibom R; Holm C; Bolinder J; Arner P
Article: NATURE. 2004;429(6990):417-423
Premature ageing in mice expressing defective mitochondrial DNA polymerase
Trifunovic A; Wredenberg A; Falkenberg M; Spelbrink JN; Rovio AT; Bruder CE; Bohlooly-Y M; Gidlöf S; Oldfors A; Wibom R; Törnell J; Jacobs HT; Larsson NG
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 NG
Article: JOURNAL OF AFFECTIVE DISORDERS. 2003;76(1-3):55-68
Alterations of mitochondrial function and correlations with personality traits in selected major depressive disorder patients
Gardner A; Johansson A; Wibom R; Nennesmo I; von Döbeln U; Hagenfeldt L; Hällström T
Article: ACTA PSYCHIATRICA SCANDINAVICA. 2003;107(3):233-239
Alterations of rCBF and mitochondrial dysfunction in major depressive disorder:: a case report
Gardner A; Pagani M; Wibom R; Nennesmo I; Jacobsson H; Hällström T
Article: ANALYTICAL BIOCHEMISTRY. 2002;311(2):139-151
Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples
Wibom R; Hagenfeldt L; von Döbeln U
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2002;99(23):15066-15071
Increased mitochondrial mass in mitochondrial myopathy mice
Wredenberg A; Wibom R; Wilhelmsson H; Graff C; Wiener HH; Burden SJ; Oldfors A; Westerblad H; Larsson NG
Article: SCIENCE OF THE TOTAL ENVIRONMENT. 2002;290(1-3):121-129
Myocardial cytochrome c oxidase activity in Swedish moose (Alces alces L.) affected by molybdenosis
Frank A; Wibom R; Danielsson R
Article: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION. 2001;61(8):609-614
Chronic cobalt exposure affects antioxidants and ATP production in rat myocardium
Clyne N; Hofman-Bang C; Haga Y; Hatori N; Marklund SL; Pehrsson SK; Wibom R
Article: ENDOCRINOLOGY. 1998;139(6):2670-2675
Glucose metabolism in Goto-Kakizaki rat islets
Ling ZC; Efendic S; Wibom R; Abdel-Halim SM; Östenson CG; Landau BR; Khan A
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 1996;144(1-2):91-98
Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1
Forsgren L; Libelius R; Holmberg M; vonDobeln U; Wibom R; Heijbel J; Sandgren O; Holmgren G
Article: ACTA NEUROLOGICA SCANDINAVICA. 1996;94(4):233-241
Monozygotic twins with MELAS-like syndrome lacking ragged red fibers and lactacidaemia.
Melberg A; Akerlund P; Raininko R; Silander HC; Wibom R; Khaled A; Nennesmo I; Lundberg PO; Olsson Y
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 1995;134(1-2):119-129
Autosomal dominant cerebellar ataxia deafness and narcolepsy.
Melberg A; Hetta J; Dahl N; Nennesmo I; Bengtsson M; Wibom R; Grant C; Gustavson KH; Lundberg PO
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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
Corrigendum: ANALYTICAL BIOCHEMISTRY. 2003;317(2):288
Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples (vol 311, pg 139, 2002)
Wibom R; Hagenfeldt L; von Döbeln U

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