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Wahlgren L, Kroksmark AK, Tulinius M, Sofou K. One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure. Eur J Epidemiol. 2022 Feb;37(2):147-156. doi: 10.1007/s10654- 021-00819-4.
Gillenstrand J, Ekström AB, Kroksmark AK, Tulinius M, Broberg M. Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy. Child Neuropsychol. 2022 Nov 28:1-14. doi: 10.1080/09297049.2022.2144814.
McDonald CM, Muntoni F, Penematsa V, Jiang J, Kristensen A, Bibbiani F, Goodwin E, Gordish-Dressman H, Morgenroth L, Werner C, Li J, Able R, Trifillis P, Tulinius M; Study 019 investigators. Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients. J Comp Eff Res. 2022 Feb;11(3):139-155. doi: 10.2217/cer-2021-0196.
Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans N, Haberlova J, Straub V, Mengle-Gaw LJ, Schwartz BD, Harper AD, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster R, McMillan HJ, Kuntz NL, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez-Padilla JJ, Nascimento-Osorio A, Niks EH, de Groot IJM, Katsalouli M, James MK, van den Anker J, Damsker JM, Ahmet A, Ward LM, Jaros M, Shale P, Dang UJ, Hoffman EP. Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Neurol. 2022 Oct 1;79(10):1005-1014. doi: 10.1001/jamaneurol.2022.2480.
Mah JK, Clemens PR, Guglieri M, Smith EC, Finkel RS, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, McDonald CM, Damsker JM, Schwartz BD, Mengle-Gaw LJ, Jackowski S, Stimpson G, Ridout DA, Ayyar-Gupta V, Baranello G, Manzur AY, Muntoni F, Gordish-Dressman H, Leinonen M, Ward LM, Hoffman EP, Dang UJ; NorthStar UK Network and CINRG DNHS Investigators. Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial. JAMA Netw Open. 2022 Jan 4;5(1):e2144178. doi: 10.1001/jamanetworkopen.2021.44178.
Dahlbom K, Geijer M, Oldfors A, Lindberg C. (2018) Association between muscle strength, histopathology and MRI in sIBM. Acta Neurol Scand. 2019;139:177-182 PMID: 30347435
Ellegård L, Aldenbratt A, Svensson MK, Lindberg C. (2018) Body composition in patients with primary neuromuscular disease assessed by dual energy X-ray absorptiometry (DXA) and three different bioimpedance devices. Clin Nutr ESPEN. 2019 Feb;29:142-148 PMID: 30661678
Winblad S, Lindberg C. (2019) Perceived fatigue in myotonic dystrophy type 1: a case-control study. BMC Neurol. 2019 Mar 28;19(1):45. doi: 10.1186/s12883-019-1280-z. PMID: 30922263
Landfeldt E, Lindberg C, Sejersen T. (2020) Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy Muscle Nerve 2020 Mar;61(3):363-368. doi: 10.1002/mus.26787 PMID: 31875971
Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Götzl R, Luna EJ, Lochmüller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C. (2020) Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206
Visuttijai K, Hedberg-Oldfors C, Lindgren U, Nordström S, Elíasdóttir Ó, Lindberg C, Oldfors A. (2020) Progressive external ophthalmoplegia associated with novel MT-TN mutations. Acta Neurol Scand. 2021;143:103-108. doi: 10.1111/ane.13339. PMID: 32869280,
Hedberg-Oldfors C, Darin N, Thomsen C, Lindberg C, Oldfors A. (2020) COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation. Neurol Genet . 2020 Jun 16;6(4):e464. doi: 10.1212 PMID: 32637636
Hedberg-Oldfors C, Macao B, Basu S, Lindberg C, Peter B, Erdinc D, Uhler JP, Larsson E, Falkenberg M, Oldfors A. (2020) Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO Neurol Genet 2020 Jan 10;6(1):e391. doi: 10.1212 PMID: 32042919
Carola Hedberg-Oldfors, Ulrika Lindgren, Swaraj Basu, Kittichate Visuttijai, Christopher Lindberg, Maria Falkenberg, Erik Larsson Lekholm and Anders Oldfors (2021) Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing Brain Pathology 2021 May;31(3):e12931. doi: 10.1111/bpa.12931. PMID: 33354847
Aldenbratt A, Lindberg C, Johannesson E, Hammarsten O, Svensson M (2021) Estimation of kidney function in patients with primary neuromuscular diseases – is serum cystatin C a better marker of kidney function than creatinine J Nephrol. 2022 Mar;35(2):493-503. doi: 10.1007/s40620-021-01122-x. Epub 2021 Aug 5.PMID: 34351595
Thomsen T, Malfatti E, Jovanovic A, Roberts M, Kalev O, Lindberg C, Oldfors A (2021) Proteomic characterization of polyglucosan bodies in skeletal muscle in RBCK1 deficiency Neuropathology and Applied Neurobiology 2021 Aug 17. doi: 10.1111/nan.12761. Online ahead of print.PMID: 34405429
Roos S, Hedberg-Oldfors C, Visuttijai K, Stein M, Kollberg G, Elíasdóttir Ó, Lindberg C, Darin N, Oldfors A (2022) Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant Brain Pathol 2022;32:e13038. doi: 10.1111/bpa.13038 PMID: 34806237
Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. (2021). Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. J Med Genet. 2021 Dec 6:jmedgenet-2021-108006. doi: 10.1136/jmedgenet-2021-108006. Online ahead of print.PMID: 34872991
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Lancet Neurol. 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8.PMID: 34800400
Lindgren U, Pullerits R, Lindberg C, Oldfors A. Epidemiology, survival and clinical characteristics of inclusion body myositis.
Ann Neurol. 2022 May 20. doi: 10.1002/ana.26412. Online ahead of print.
Parasyri M, Brandström P, Uusimaa J, Ostergaard E, Hikmat O, Isohanni P, Naess K, de Coo IFM, Nascimento Osorio A, Nuutinen M, Lindberg C, Bindoff LA, Tulinius M, Darin N, Sofou K. Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Kidney Dis (Basel). 2022 Jan 24;8(2):148-159. doi: 10.1159/000521148. eCollection 2022 Mar.
Piehl F, Eriksson-Dufva A, Budzianowska A, Feresiadou A, Hansson W, Hietala MA, Håkansson I, Johansson R, Jons D, Kmezic I, Lindberg C, Lindh J, Lundin F, Nygren I, Punga AR, Press R, Samuelsson K, Sundström P, Wickberg O, Brauner S, Frisell T.
Efficacy and Safety of Rituximab for New-Onset Generalized Myasthenia Gravis: The RINOMAX Randomized Clinical Trial. JAMA Neurol. 2022 Sep 19. doi: 10.1001/jamaneurol.2022.2887.
Hedberg-Oldfors C, Elíasdóttir Ó, Geijer M, Lindberg C, Oldfors A. Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2. BMC Neurol. 2022 Nov 15;22(1):428. doi: 10.1186/s12883-022-02935-4.PMID: 36380287