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Anders Oldfors
Seniorforskare
Avdelningen för LaboratoriemedicinOm Anders Oldfors
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EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin
deficiency.
Linda Bulmer, Charlotta Ljungman, Johan Hallin, Pia Dahlberg, Christian Lars Polte, Carola Oldfors Hedberg, Anders Oldfors, Anders Gummesson
European journal of human genetics : EJHG - 2025 -
Inflammatory and degenerative changes in the extensor pollicis longus muscle and tendon following ruptures caused by distal radius
fractures.
Christos Ni Sarigiannis, Michael Ullman, Ingrid Andreasson, Anders Oldfors, Anders Björkman
BMC musculoskeletal disorders - 2025 -
Histopathological Evaluation of Somatostatin Receptor 2 Expression in Myocarditis-Rationale for the Diagnostic Use of Somatostatin Receptor
Imaging.
Christian Lars Polte, Kittichate Visuttijai, Kristina Vukusic, Joakim Sandstedt, Mikael Sandstedt, Emanuele Bobbio, Marie Björkenstam, Kristjan Karason, Niklas Bergh, Entela Bollano, Anders Oldfors
Diagnostics (Basel) - 2024 -
The congenital
myopathies
Nicol C. Voermans, Anders Oldfors, Heinz Jungbluth
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition: Volume 2 - 2024 -
Stem Cell-Associated Proteins and Extracellular Matrix Composition of the Human Atrioventricular
Junction
Annika Thorsell, Linnéa Sjölin, Evelin Berger, Anders Jeppsson, Anders Oldfors, Victoria Rotter Sopasakis, Kristina Vukusic
CELLS - 2024 -
Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain
deficiency
Carola Oldfors Hedberg, Ulrika Lindgren, Kittichate Visuttijai, Yan Shen, Andreea Ilinca, Sara Nordstrom, Christopher Lindberg, Anders Oldfors
ACTA NEUROPATHOLOGICA - 2024 -
A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the
phenotype
Elizabeth Jennions, M. Olsson-Engman, K. Visuttijai, Åsa Wiksell, N. Fluriach Dominguez, Gittan Kollberg, Anders Oldfors, Carola Oldfors Hedberg
AMERICAN JOURNAL OF MEDICAL GENETICS PART A - 2024 -
Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal
muscle
Kittichate Visuttijai, Carola Oldfors Hedberg, Daniel J. Costello, Niamh Bermingham, Anders Oldfors
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY - 2024 -
Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in <i>MYMK</i>-related, Carey-Fineman-Ziter
Syndrome
Hannah F. Dugdale, Yotam Levy, Heinz Jungbluth, Anders Oldfors, Julien Ochala
ACTA NEUROPATHOLOGICA COMMUNICATIONS - 2024 -
Human skeletal myopathy myosin mutations disrupt myosin head
sequestration
G. Carrington, A. Hau, S. Kosta, H. F. Dugdale, F. Muntoni, A. D'Amico, P. van den Bergh, N. B. Romero, E. Malfatti, J. J. Vilchez, Anders Oldfors, S. Pajusalu, K. Ounap, M. Giralt-Pujol, E. Zanoteli, K. S. Campbell, H. Iwamoto, M. Peckham, J. Ochala
JCI Insight - 2023 -
Echocardiography in inflammatory heart disease: A comparison of giant cell myocarditis, cardiac sarcoidosis, and acute non-fulminant
myocarditis
Emanuele Bobbio, Johanna Amundsen, Anders Oldfors, Entela Bollano, Niklas Bergh, Marie Björkenstam, Marco Astengo, Kristjan Karason, Sinsia A Gao, Christian Lars Polte
IJC Heart and Vasculature - 2023 -
Inclusion body myositis with early onset: a population-based
study
Ulrika Lindgren, Carola Oldfors Hedberg, Rille Pullerits, C. Lindberg, Anders Oldfors
Journal of Neurology - 2023 -
Expression of Stem Cell Niche-Related Biomarkers at the Base of the Human Tricuspid
Valve
Jacob Sjölin, Marianne Jonsson, Charlotta Orback, Anders Oldfors, Anders Jeppsson, Jane Synnergren, Victoria Rotter Sopasakis, Kristina Vukusic
Stem Cells and Development - 2023 -
Phenotyping of giant cell myocarditis versus cardiac sarcoidosis using cardiovascular magnetic
resonance.
Emanuele Bobbio, Entela Bollano, Anders Oldfors, Henrik Hedner, Marie Björkenstam, Sara Svedlund, Kristjan Karason, Niklas Bergh, Christian Lars Polte
International journal of cardiology - 2023 -
Subtyping of cardiac amyloidosis by mass spectrometry-based proteomics of endomyocardial
biopsies.
Fredrik Noborn, Christer Thomsen, Egor Vorontsov, Emanuele Bobbio, Carina Sihlbom, Jonas A Nilsson, Christian Lars Polte, Entela Bollano, Kristina Vukusic, Joakim Sandstedt, Göran Dellgren, Kristjan Karason, Anders Oldfors, Göran Larson
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 2023 -
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and
anemia
Carola Oldfors Hedberg, Sanhita Mitra, Antonio Molinaro, Kittichate Visuttijai, Linda Fogelstrand, Anders Oldfors, Fredrik H Sterky, Niklas Darin
European Journal of Human Genetics - 2023 -
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre
study
M. Schiava, C. Ikenaga, R. N. Villar-Quiles, M. Caballero-Avila, A. Topf, I. Nishino, V. Kimonis, B. Udd, B. Schoser, E. Zanoteli, P. V. S. Souza, G. Tasca, T. Lloyd, A. Lopez-de Munain, C. Paradas, E. Pegoraro, A. Nadaj-Pakleza, J. De Bleecker, U. Badrising, A. Alonso-Jimenez, A. Kostera-Pruszczyk, F. Miralles, J. H. Shin, J. A. Bevilacqua, M. Olive, M. Vorgerd, R. Kley, S. Brady, T. Williams, C. Dominguez-Gonzalez, G. K. Papadimas, J. Warman, K. G. Claeys, M. de Visser, N. Muelas, P. LaForet, E. Malfatti, L. N. Alfano, S. S. Nair, G. Manousakis, H. A. Kushlaf, M. B. Harms, C. Nance, A. Ramos-Fransi, C. Rodolico, C. Hewamadduma, H. Cetin, J. Garcia-Garcia, E. Pal, M. E. Farrugia, P. J. Lamont, C. Quinn, V. Nedkova-Hristova, S. Peric, S. S. Luo, Anders Oldfors, K. Taylor, S. Ralston, T. Stojkovic, C. Weihl, J. Diaz-Manera, V. C. P. Int Study Grp V. C. P. Int Study Grp
Journal of Neurology Neurosurgery and Psychiatry - 2022 -
Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA
depletion
Carola Oldfors Hedberg, Ulrika Lindgren, Kittichate Visuttijai, Daniel Lööf, Sara Roos, Christer Thomsen, Anders Oldfors
Neuropathology and Applied Neurobiology - 2022 -
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C
variant
Sara Roos, Carola Oldfors Hedberg, Kittichate Visuttijai, M. Stein, Gittan Kollberg, O. Eliasdottir, C. Lindberg, Niklas Darin, Anders Oldfors
Brain Pathology - 2022 -
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of
MYH2
Carola Oldfors Hedberg, O. Eliasdottir, Mats Geijer, C. Lindberg, Anders Oldfors
BMC Neurology - 2022 -
Cardiac sarcoidosis and giant cell myocarditis after COVID-19
infection.
Entela Bollano, Christian Lars Polte, Mikko I Mäyränpää, Anders Oldfors, Niklas Bergh, Jukka Lehtonen, Riina Kandolin
ESC heart failure - 2022 -
Somatostatin Receptor Positron Emission Tomography/Computed Tomography in Giant Cell Myocarditis: A Promising Approach to Molecular Myocardial Inflammation
Imaging.
Christian Lars Polte, Entela Bollano, Anders Oldfors, Anna Dudàs, Kerstin M Lagerstrand, Jakob Himmelman, Emanuele Bobbio, Kristjan Karason, Martijn van Essen, Niklas Bergh
Circulation. Cardiovascular imaging - 2022 -
Diagnosis, management, and outcome of cardiac sarcoidosis and giant cell myocarditis: a Swedish single center
experience.
Emanuele Bobbio, Clara Hjalmarsson, Marie Björkenstam, Christian Lars Polte, Anders Oldfors, Ulf Lindström, Pia Dahlberg, Sven-Erik Bartfay, Piotr Szamlewski, Amar Taha, Egidija Sakiniene, Kristjan Karason, Niklas Bergh, Entela Bollano
BMC cardiovascular disorders - 2022 -
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1
deficiency
Christer Thomsen, E. Malfatti, A. Jovanovic, M. Roberts, O. Kalev, Christopher Lindberg, Anders Oldfors
Neuropathology and Applied Neurobiology - 2022 -
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body
Myositis
Ulrika Lindgren, Rille Pullerits, C. Lindberg, Anders Oldfors
Annals of Neurology - 2022 -
Cardiac involvement in immune-mediated necrotizing myopathy: insights from CMR and somatostatin receptor
PET/CT.
Christian Lars Polte, Niklas Bergh, Anders Oldfors, Hanna Balsam, Entela Bollano
European heart journal. Cardiovascular Imaging - 2021 -
Functional analysis of a novel POL gamma A mutation associated with a severe perinatal mitochondrial
encephalomyopathy
Niklas Darin, Triinu Siibak, Bradley Peter, Carola Oldfors Hedberg, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg
Neuromuscular Disorders - 2021 -
The phenotypic variability and natural history of NARS2 associated
disease
Kalliopi Sofou, Gittan Kollberg, Carola Oldfors Hedberg, Anders Oldfors
European Journal of Paediatric Neurology - 2021 -
The localization of amyloid precursor protein to ependymal cilia in vertebrates and its role in ciliogenesis and brain development in
zebrafish
Jasmine Chebli, Maryam Rahmati, T. Lashley, Brigitta Edeman, Anders Oldfors, Henrik Zetterberg, Alexandra Abramsson
Scientific Reports - 2021 -
Mitochondrial DNA variants in inclusion body myositis characterized by deep
sequencing
Carola Oldfors Hedberg, Ulrika Lindgren, Swaraj Basu, Kittichate Visuttijai, Christopher Lindberg, Maria Falkenberg, Erik Larsson Lekholm, Anders Oldfors
Brain Pathology - 2021 -
Progressive external ophthalmoplegia associated with
novelMT-TNmutations
Kittichate Visuttijai, Carola Oldfors Hedberg, Ulrika Lindgren, S. Nordstrom, O. Eliasdottir, C. Lindberg, Anders Oldfors
Acta Neurologica Scandinavica - 2021 -
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic
vacuoles
Carola Oldfors Hedberg, R. Meyer, K. Nolte, Yassir Abdul Rahim, C. Lindberg, K. Karason, I. J. Thuestad, Kittichate Visuttijai, Mats Geijer, M. Begemann, F. Kraft, E. Lausberg, L. Hitpass, R. Gotzl, E. J. Luna, H. Lochmuller, S. Koschmieder, M. Gramlich, B. Gess, M. Elbracht, J. Weis, I. Kurth, Anders Oldfors, C. Knopp
Brain - 2020 -
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with
arPEO.
Carola Oldfors Hedberg, Bertil Macao, Swaraj Basu, Christopher Lindberg, Bradley Peter, Jay (Jennifer) Uhler, Erik Larsson, Maria Falkenberg, Anders Oldfors
Neurology. Genetics - 2020 -
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric
Cores
S. Donkervoort, C. E. Kutzner, Y. Hu, X. Lornage, J. Rendu, T. Stojkovic, J. Baets, S. B. Neuhaus, J. Tanboon, R. Maroofian, V. Bolduc, M. Mroczek, S. Conijn, N. L. Kuntz, A. Topf, S. Monges, F. Lubieniecki, R. M. McCarty, K. R. Chao, S. Governali, J. Bohm, K. Boonyapisit, E. Malfatti, T. Sangruchi, I. Horkayne-Szakaly, Carola Oldfors Hedberg, S. Efthymiou, S. Noguchi, S. Djeddi, A. Iida, G. di Rosa, C. Fiorillo, V. Salpietro, Niklas Darin, J. Faure, H. Houlden, Anders Oldfors, I. Nishino, W. de Ridder, V. Straub, W. Pokrzywa, J. Laporte, A. R. Foley, N. B. Romero, C. Ottenheijm, T. Hoppe, C. G. Bonnemann
American Journal of Human Genetics - 2020 -
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8
mutation
Carola Oldfors Hedberg, Niklas Darin, Christer Thomsen, C. Lindberg, Anders Oldfors
Neurology-Genetics - 2020 -
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current
literature
R. Phadke, Carola Oldfors Hedberg, R. S. Scalco, D. M. Lowe, M. Ashworth, M. Novelli, R. Vara, A. Merwick, H. Amer, R. Sofat, M. Sugarman, A. Jovanovic, M. Roberts, V. Nakou, A. King, I. Bodi, H. Jungbluth, Anders Oldfors, E. Murphy
Journal of Inherited Metabolic Disease - 2020 -
Accurate mapping of mitochondrial DNA deletions and duplications using deep
sequencing
Swaraj Basu, Xie Xie, Jay (Jennifer) Uhler, Carola Oldfors Hedberg, D. Milenkovic, O. R. Baris, S. Kimoloi, S. Matic, J. B. Stewart, N. G. Larsson, R. J. Wiesner, Anders Oldfors, Claes M Gustafsson, Maria Falkenberg, Erik Larsson
PLoS Genetics - 2020 -
Glycogenin is dispensable for glycogen synthesis in human muscle and glycogenin deficiency causes polyglucosan
storage.
Kittichate Visuttijai, Carola Oldfors Hedberg, Christer Thomsen, Emma Glamuzina, Cornelia Kornblum, Giorgio Tasca, Aurelio Hernandez-Lain, Joakim Sandstedt, Göran Dellgren, Peter Roach, Anders Oldfors
The Journal of clinical endocrinology and metabolism - 2020 -
Clinical Diagnosis and Subtyping of Cardiac Amyloidosis by Mass
Spectrometry.
Emanuele Bobbio, Entela Bollano, S Esmaily, Christer Thomsen, Fredrik Noborn, Carina Sihlbom, Egor Vorontsov, Göran Dellgren, G Larson, Anders Oldfors, Kristjan Karason
The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation - 2020 -
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy
impairment
P. Laforet, M. Inoue, E. Goillot, C. Lefeuvre, U. Cagin, N. Streichenberger, S. Leonard-Louis, G. Brochier, A. Madelaine, C. Labasse, Carola Oldfors Hedberg, T. Krag, L. Jauze, J. Fabregue, P. Labrune, J. Milisenda, A. Nadaj-Pakleza, S. Sacconi, F. Mingozzi, G. Ronzitti, F. Petit, B. Schoser, Anders Oldfors, J. Vissing, N. B. Romero, I. Nishino, E. Malfatti
Acta Neuropathologica Communications - 2019 -
The Atrioventricular Junction: A Potential Niche Region for Progenitor Cells in the Adult Human
Heart
Kristina Vukusic, Mikael Sandstedt, Marianne Jonsson, Märta Jansson, Anders Oldfors, Anders Jeppsson, Göran Dellgren, Anders Lindahl, Joakim Sandstedt
Stem Cells and Development - 2019 -
Prenatal onset of mitochondrial disease is associated with sideroflexin 4
deficiency
Kalliopi Sofou, Carola Oldfors Hedberg, Gittan Kollberg, Christer Thomsen, Åsa Wiksell, Anders Oldfors, Mar Tulinius
Mitochondrion - 2019 -
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2
gene
M. Meinert, E. Englund, Carola Oldfors Hedberg, Anders Oldfors, B. Kornhall, C. Lundin, E. Wittstrom
Ophthalmic Genetics - 2019 -
Cardiomyopathy with lethal arrhythmias associated with inactivation of
KLHL24
Carola Oldfors Hedberg, Alexandra Abramsson, D. P. S. Osborn, O. Danielsson, A. Fazlinezhad, Y. Nilipour, L. Hubbert, I. Nennesmo, Kittichate Visuttijai, J. Bharj, E. Petropoulou, A. Shoreim, B. Vona, N. Ahangari, Marcela Davila Lopez, M. Doosti, Rakesh Kumar Banote, R. Maroofian, Malin Edling, M. Taherpour, Henrik Zetterberg, E. G. Karimiani, Anders Oldfors, Y. Jamshidi
Human Molecular Genetics - 2019 -
Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3
mutations
Eva Michael, Carola Oldfors Hedberg, Philip Wilmar, Kittichate Visuttijai, Anders Oldfors, Niklas Darin
Neuromuscular Disorders - 2019 -
Cardiac arrest in Wilson's disease after curative liver transplantation: a life-threatening complication of myocardial copper
excess?
Niklas Forsgard, Anders Oldfors, Entela Bollano, Bert Andersson, Niklas Bergh, Kristjan Karason, Christian Lars Polte
ESC Heart Failure - 2019 -
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with
spheroids
Christina Sundal, Susana Carmona, Maria Yhr, Odd Almström, Maria Ljungberg, John Hardy, Carola Oldfors Hedberg, Åsa Fred, José Bras, Anders Oldfors, Oluf Andersen, Rita Guerreiro
Acta Neuropathologica Communications - 2019 -
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1
deficiency
Carola Oldfors Hedberg, W. De Ridder, O. Kalev, K. Bock, K. Visuttijai, G. Caravias, A. Topf, V. Straub, J. Baets, Anders Oldfors
Neuromuscular Disorders - 2019 -
Parvovirus B19 in Endomyocardial Biopsy of Patients With Idiopathic Dilated Cardiomyopathy: Foe or
Bystander?
Clara Hjalmarsson, Jan-Åke Liljeqvist, Magnus Lindh, Kristjan Karason, Entela Bollano, Anders Oldfors, Bert Andersson
Journal of Cardiac Failure - 2019 -
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy
metabolism.
Elizabeth Jennions, Carola Oldfors Hedberg, Anna-Karin Berglund, Gittan Kollberg, Carl-Johan Törnhage, Erik A Eklund, Anders Oldfors, Patrick Verloo, Arnaud V Vanlander, Linda De Meirleir, Sara Seneca, Fredrik H Sterky, Niklas Darin
Journal of inherited metabolic disease - 2019
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