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ArticlesPeer ReviewedFull Text
Myosinopathies: pathology and mechanisms
Author / Creator:Tajsharghi, Homa ; Oldfors, Anders
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2013-01, Vol.125 (1), p.3-18
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Inflammatory and degenerative changes in the extensor pollicis longus muscle and tendon following ruptures caused by distal radius fractures
Author / Creator:Sarigiannis, Christos Ni ; Ullman, Michael ; Andreasson, Ingrid ; Oldfors, Anders ; Björkman, Anders
Publisher:England: BioMed Central Ltd
Journal title:BMC musculoskeletal disorders, 2025-01, Vol.26 (1), p.10-11, Article 10
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The localization of amyloid precursor protein to ependymal cilia in vertebrates and its role in ciliogenesis and brain development in zebrafish
Author / Creator:Chebli, Jasmine ; Rahmati, Maryam ; Lashley, Tammaryn ; Edeman, Brigitta ; Oldfors, Anders ; Zetterberg, Henrik ; Abramsson, Alexandra
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-09, Vol.11 (1), p.19115-19115, Article 19115
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Global ischemia induces stemness and dedifferentiation in human adult cardiomyocytes after cardiac arrest
Author / Creator:Jinton, Helen ; Sopasakis, Victoria Rotter ; Sjölin, Linnéa ; Oldfors, Anders ; Jeppsson, Anders ; Oras, Jonatan ; Wernbom, Mathias ; Vukusic, Kristina
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-06, Vol.14 (1), p.14256-10, Article 14256
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Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing
Author / Creator:Basu, Swaraj ; Xie, Xie ; Uhler, Jay P ; Hedberg-Oldfors, Carola ; Milenkovic, Dusanka ; Baris, Olivier R ; Kimoloi, Sammy ; Matic, Stanka ; Stewart, James B ; Larsson, Nils-Göran ; Wiesner, Rudolf J ; Oldfors, Anders ; Gustafsson, Claes M ; Falkenberg, Maria ; Larsson, Erik
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-12, Vol.16 (12), p.e1009242
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ArticlesPeer ReviewedFull Text
Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis
Author / Creator:Moslemi, Ali-Reza ; Lindberg, Christopher ; Nilsson, Johanna ; Tajsharghi, Homa ; Andersson, Bert ; Oldfors, Anders
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2010-04, Vol.362 (13), p.1203-1210
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Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome
Author / Creator:Dugdale, Hannah F ; Levy, Yotam ; Jungbluth, Heinz ; Oldfors, Anders ; Ochala, Julien
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2024-05, Vol.12 (1), p.80-11, Article 80
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Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2
Author / Creator:Hedberg-Oldfors, Carola ; Elíasdóttir, Ólöf ; Geijer, Mats ; Lindberg, Christopher ; Oldfors, Anders
Publisher:London: BioMed Central Ltd
Journal title:BMC neurology, 2022-11, Vol.22 (1), p.1-428, Article 428
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Diagnosis, management, and outcome of cardiac sarcoidosis and giant cell myocarditis: a Swedish single center experience
Author / Creator:Bobbio, Emanuele ; Hjalmarsson, Clara ; Björkenstam, Marie ; Polte, Christian L ; Oldfors, Anders ; Lindström, Ulf ; Dahlberg, Pia ; Bartfay, Sven-Erik ; Szamlewski, Piotr ; Taha, Amar ; Sakiniene, Egidija ; Karason, Kristjan ; Bergh, Niklas ; Bollano, Entela
Publisher:England: BioMed Central Ltd
Journal title:BMC cardiovascular disorders, 2022-04, Vol.22 (1), p.192-192, Article 192
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Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner
Author / Creator:Sandstedt, Mikael ; Rotter Sopasakis, Victoria ; Lundqvist, Annika ; Vukusic, Kristina ; Oldfors, Anders ; Dellgren, Göran ; Sandstedt, Joakim ; Hultén, Lillemor Mattsson
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-08, Vol.13 (8), p.e0202693-e0202693
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Glycogen pathways in disease: new developments in a classical field of medical genetics
Author / Creator:Kilimann, Manfred W. ; Oldfors, Anders
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.483-487
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Stem Cell-Associated Proteins and Extracellular Matrix Composition of the Human Atrioventricular Junction
Author / Creator:Thorsell, Annika ; Sjölin, Linnéa ; Berger, Evelin ; Jeppsson, Anders ; Oldfors, Anders ; Rotter Sopasakis, Victoria ; Vukusic, Kristina
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2024-12, Vol.13 (24), p.2048
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Author / Creator:Ávila-Polo, Rainiero ; Malfatti, Edoardo ; Lornage, Xavière ; Cheraud, Chrystel ; Nelson, Isabelle ; Nectoux, Juliette ; Böhm, Johann ; Schneider, Raphaël ; Hedberg-Oldfors, Carola ; Eymard, Bruno ; Monges, Soledad ; Lubieniecki, Fabiana ; Brochier, Guy ; Thao Bui, Mai ; Madelaine, Angeline ; Labasse, Clémence ; Beuvin, Maud ; Lacène, Emmanuelle ; Boland, Anne ; Deleuze, Jean-François ; Thompson, Julie ; Richard, Isabelle ; Taratuto, Ana Lía ; Udd, Bjarne ; Leturcq, France ; Bonne, Gisèle ; Oldfors, Anders ; Laporte, Jocelyn ; Romero, Norma Beatriz
Publisher:England: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2018-12, Vol.77 (12), p.1101-1114
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ArticlesPeer ReviewedFull Text
Cardiac sarcoidosis and giant cell myocarditis after COVID‐19 infection
Author / Creator:Bollano, Entela ; Polte, Christian Lars ; Mäyränpää, Mikko I. ; Oldfors, Anders ; Bergh, Niklas ; Lehtonen, Jukka ; Kandolin, Riina
Publisher:England: John Wiley & Sons, Inc
Journal title:ESC Heart Failure, 2022-12, Vol.9 (6), p.4298-4303
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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Author / Creator:Toussaint, Anne ; Cowling, Belinda Simone ; Hnia, Karim ; Mohr, Michel ; Oldfors, Anders ; Schwab, Yannick ; Yis, Uluc ; Maisonobe, Thierry ; Stojkovic, Tanya ; Wallgren-Pettersson, Carina ; Laugel, Vincent ; Echaniz-Laguna, Andoni ; Mandel, Jean-Louis ; Nishino, Ichizo ; Laporte, Jocelyn
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2011-02, Vol.121 (2), p.253-266
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Cardiomyopathy and Exercise Intolerance in Muscle Glycogen Storage Disease 0
Author / Creator:Kollberg, Gittan ; Tulinius, Már ; Gilljam, Thomas ; Östman-Smith, Ingegerd ; Forsander, Gun ; Jotorp, Peter ; Oldfors, Anders ; Holme, Elisabeth
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2007-10, Vol.357 (15), p.1507-1514
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An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids
Author / Creator:Sundal, Christina ; Carmona, Susana ; Yhr, Maria ; Almström, Odd ; Ljungberg, Maria ; Hardy, John ; Hedberg-Oldfors, Carola ; Fred, Åsa ; Brás, José ; Oldfors, Anders ; Andersen, Oluf ; Guerreiro, Rita
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2019-11, Vol.7 (1), p.188-188, Article 188
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Histopathological Evaluation of Somatostatin Receptor 2 Expression in Myocarditis-Rationale for the Diagnostic Use of Somatostatin Receptor Imaging
Author / Creator:Polte, Christian L ; Visuttijai, Kittichate ; Vukusic, Kristina ; Sandstedt, Joakim ; Sandstedt, Mikael ; Bobbio, Emanuele ; Björkenstam, Marie ; Karason, Kristjan ; Bergh, Niklas ; Bollano, Entela ; Oldfors, Anders
Publisher:Switzerland: MDPI AG
Journal title:Diagnostics (Basel), 2024-11, Vol.14 (21), p.2374
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Increased Mitochondrial Mass in Mitochondrial Myopathy Mice
Author / Creator:Wredenberg, Anna ; Wibom, Rolf ; Wilhelmsson, Hans ; Graff, Caroline ; Wiener, Heidi H. ; Burden, Steven J. ; Oldfors, Anders ; Westerblad, Håkan ; Larsson, Nils-Göran
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2002-11, Vol.99 (23), p.15066-15071
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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Author / Creator:Biancalana, Valérie ; Romero, Norma B ; Thuestad, Inger Johanne ; Ignatius, Jaakko ; Kataja, Janne ; Gardberg, Maria ; Héron, Delphine ; Malfatti, Edoardo ; Oldfors, Anders ; Laporte, Jocelyn
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2018-09, Vol.6 (1), p.93-93, Article 93
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Showing 1 to 20 of 73 results

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Myosinopathies: pathology and mechanisms

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Inflammatory and degenerative changes in the extensor pollicis longus muscle and tendon following ruptures caused by distal radius fractures

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The localization of amyloid precursor protein to ependymal cilia in vertebrates and its role in ciliogenesis and brain development in zebrafish

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Global ischemia induces stemness and dedifferentiation in human adult cardiomyocytes after cardiac arrest

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Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

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Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis

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Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome

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Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2

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Diagnosis, management, and outcome of cardiac sarcoidosis and giant cell myocarditis: a Swedish single center experience

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Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner

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Glycogen pathways in disease: new developments in a classical field of medical genetics

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Stem Cell-Associated Proteins and Extracellular Matrix Composition of the Human Atrioventricular Junction

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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

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Cardiac sarcoidosis and giant cell myocarditis after COVID‐19 infection

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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

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Cardiomyopathy and Exercise Intolerance in Muscle Glycogen Storage Disease 0

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An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

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Histopathological Evaluation of Somatostatin Receptor 2 Expression in Myocarditis-Rationale for the Diagnostic Use of Somatostatin Receptor Imaging

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Increased Mitochondrial Mass in Mitochondrial Myopathy Mice

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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

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