Kunskapsstöd, forskning och utveckling (FoUUI)

Lokala, regionala, nationella och internationella kunskapsstöd som expertteamet använder sig av samt vetenskapliga publikationer av expertteamet.

Regionala kunskapsstöd

Internationella kunskapsstöd

Riktlinjer vid anestesi

Forskning, utveckling, utbildning och innovation (FoUUI)

Sahlgrenska Universitetssjukhuset har omfattande forskning och utbildning inom området neuromuskulära sjukdomar. Ett flertal nya neuromuskulära sjukdomar har först beskrivits här. Sjukhuset har varit och är delaktig i framtagande av nya läkemedelsbehandlingar för neuromuskulära sjukdomar, och utgör också ett centrum för nationell implementering av dessa nya behandlingar.

 

Expertteamets publikationer kring neuromuskulära sjukdomar

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