Anders Oldfors
Om Anders Oldfors
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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 - 2021-01-01 -
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 - 2021-01-01 -
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 - 2021-01-01 -
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 - 2021-01-01 -
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 - 2021-01-01 -
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 - 2021-01-01 -
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 - 2021-01-01 -
The phenotypic variability and natural history of NARS2 associated
disease
Kalliopi Sofou, Gittan Kollberg, Carola Oldfors Hedberg, Anders Oldfors
European Journal of Paediatric Neurology - 2021-01-01 -
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 - 2021-01-01 -
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 - 2020-01-01 -
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 - 2020-01-01 -
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 - 2020-01-01 -
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 - 2020-01-01 -
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 - 2020-01-01 -
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 - 2020-01-01 -
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 - 2020-01-01 -
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 - 2020-01-01 -
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 - 2019-01-01 -
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 - 2019-01-01 -
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 - 2019-01-01 -
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 - 2019-01-01 -
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 - 2019-01-01 -
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 - 2019-01-01 -
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine
profile
Sara Roos, Kalliopi Sofou, Carola Oldfors Hedberg, Gittan Kollberg, Ulrika Lindgren, Christer Thomsen, Mar Tulinius, Anders Oldfors
European Journal of Human Genetics - 2019-01-01 -
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 - 2019-01-01 -
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 - 2019-01-01 -
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 - 2019-01-01 -
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 - 2019-01-01 -
Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body
myositis.
Kathe Dahlbom, Mats Geijer, Anders Oldfors, Christopher Lindberg
Acta neurologica Scandinavica - 2019-01-01 -
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 - 2019-01-01 -
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related
Myopathies
R. Ávila-Polo, E. Malfatti, X. Lornage, C. Cheraud, I. Nelson, J. Nectoux, J. Böhm, R. Schneider, Carola Oldfors Hedberg, B. Eymard, S. Monges, F. Lubieniecki, G. Brochier, M. Thao Bui, A. Madelaine, C. Labasse, M. Beuvin, E. Lacène, A. Boland, J. F. Deleuze, J. Thompson, I. Richard, A. L. Taratuto, B. Udd, F. Leturcq, G. Bonne, Anders Oldfors, J. Laporte, N. B. Romero
Journal of Neuropathology and Experimental Neurology - 2018-01-01 -
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber
hypertrophy
Carola Oldfors Hedberg, Christopher Lindberg, Anders Oldfors
Neurology-Genetics - 2018-01-01 -
Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent
manner
Mikael Sandstedt, Victoria Rotter Sopasakis, Annika Lundqvist, Kristina Vukusic, Anders Oldfors, Göran Dellgren, Joakim Sandstedt, Lillemor Mattsson Hultén
Plos One - 2018-01-01 -
A novel complex neurological phenotype due to a homozygous mutation in
FDX2
J. Gurgel-Giannetti, D. S. Lynch, A. R. B. de Paiva, L. T. Lucato, G. Yamamoto, Christer Thomsen, S. Basu, F. Freua, A. V. Giannetti, B. D. de Assis, M. D. Ribeiro, I. Barcelos, K. S. Souza, F. Monti, U. S. Melo, S. Amorim, L. G. L. Silva, L. I. Macedo-Souza, A. M. Vianna-Morgante, M. Hirano, M. S. Van der Knaap, R. Lill, M. Vainzof, Anders Oldfors, H. Houlden, F. Kok
Brain - 2018-01-01 -
Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial
disease.
Emil Westerlund, Sigurður E Marelsson, Johannes K Ehinger, Fredrik Sjövall, Saori Morota, Eleonor Åsander Frostner, Anders Oldfors, Niklas Darin, Johan Lundgren, Magnus J Hansson, Vineta Fellman, Eskil Elmér
Pediatric research - 2018-01-01 -
Polyglucosan myopathy and functional characterization of a novel GYG1
mutation
Carola Oldfors Hedberg, A. Mensch, Kittichate Visuttijai, G. Stoltenburg, D. Stoevesandt, T. Kraya, Anders Oldfors, S. Zierz
Acta Neurologica Scandinavica - 2018-01-01 -
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
European Heart Journal Volume 38, Issue suppl_1 - 2017-01-01 -
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic
male.
Carola Oldfors Hedberg, Kittichate Visuttijai, Mar Tulinius, Anders Oldfors
Neuromuscular disorders : NMD - 2017-01-01 -
Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the
literature.
Carola Oldfors Hedberg, Niklas Darin, Anders Oldfors
Neuromuscular disorders : NMD - 2017-01-01 -
Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in
MTTL1.
Niklas Darin, Carola Oldfors Hedberg, Anna-Karin Kroksmark, Ali-Reza Moslemi, Gittan Kollberg, Anders Oldfors
European journal of neurology - 2017-01-01 -
Myopathology in the times of modern
genetics.
Markus Schuelke, Nancy Christine Øien, Anders Oldfors
Neuropathology and applied neurobiology - 2017-01-01 -
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the
literature.
Carola Oldfors Hedberg, Emma Glamuzina, Peter Ruygrok, Lisa J Anderson, Perry Elliott, Oliver Watkinson, Chris Occleshaw, Malcolm Abernathy, Clinton Turner, Nicola Kingston, Elaine Murphy, Anders Oldfors
Journal of inherited metabolic disease - 2017-01-01 -
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic
Counselling.
Sabine Grønborg, Niklas Darin, Maria J Miranda, Bodil Damgaard, Jorge Asin-Cayuela, Anders Oldfors, Gittan Kollberg, Thomas V O Hansen, Kirstine Ravn, Flemming Wibrand, Elsebet Østergaard
JIMD reports - 2016-01-01 -
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in
muscle
E. Malfatti, C. Barnerias, Carola Oldfors Hedberg, C. Gitiaux, A. Benezit, Anders Oldfors, R. Y. Carlier, S. Quijano-Roy, N. B. Romero
Neuromuscular Disorders - 2016-01-01 -
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY)
deficiency.
Carola Oldfors Hedberg, Niklas Darin, Mia Olsson Engman, Zacharias Orfanos, Christer Thomsen, Peter F M van der Ven, Anders Oldfors
European journal of human genetics : EJHG - 2016-01-01 -
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial
weakness
T. Willis, Carola Oldfors Hedberg, Z. Alhaswani, R. Kulshrestha, C. Sewry, Anders Oldfors
Journal of Neurology - 2016-01-01 -
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline
rods.
Giorgio Tasca, Fabiana Fattori, Mauro Monforte, Carola Oldfors Hedberg, Mario Sabatelli, Bjarne Udd, Renata Boldrini, Enrico Bertini, Enzo Ricci, Anders Oldfors
Journal of neurology - 2016-01-01 -
Histopathological changes in skeletal muscle associated with chronic
ischaemia.
Sara Roos, Katharina Stibrant Sunnerhagen, Ali-Reza Moslemi, Anders Oldfors
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica - 2016-01-01 -
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal
presentation.
Alexandra Topa, Mar Tulinius, Anders Oldfors, Carola Oldfors Hedberg
American journal of medical genetics. Part A - 2016-01-01 -
Search for Pompe disease among patients with undetermined
myopathies
Christopher Lindberg, B. Anderson, M. Engvall, M. Hult, Anders Oldfors
Acta Neurologica Scandinavica - 2016-01-01 -
Early onset cardiomyopathy in females with Danon
disease
Carola Oldfors Hedberg, Gyöngyvér Máthé, K. Thomson, Mar Tulinius, Kristjan Karason, Ingegerd Östman-Smith, Anders Oldfors
Neuromuscular Disorders - 2015-01-01 -
Glycogen pathways in disease: new developments in a classical field of medical
genetics
M. W. Kilimann, Anders Oldfors
Journal of Inherited Metabolic Disease - 2015-01-01 -
Polyglucosan storage
myopathies
Carola Oldfors Hedberg, Anders Oldfors
Molecular Aspects of Medicine - 2015-01-01 -
Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1
mutation
S. S. Luo, W. H. Zhu, D. Y. Yue, J. Lin, Y. Wang, Z. Zhu, W. J. Qiu, J. H. Lu, Carola Oldfors Hedberg, Anders Oldfors, C. B. Zhao
Neuromuscular Disorders - 2015-01-01 -
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3
mutations
M. Olive, Saba Abdul-Hussein, Anders Oldfors, J. Gonzalez-Costello, P. F. M. van der Ven, D. O. Furst, L. Gonzalez, D. Moreno, B. Torrejon-Escribano, J. Alio, A. Pou, I. Ferrer, Homa Tajsharghi
Human Molecular Genetics - 2015-01-01 -
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace
fibres
O. Casar-Borota, J. Jacobsson, R. Libelius, Carola Oldfors Hedberg, E. Malfatti, N. B. Romero, Anders Oldfors
Neuromuscular Disorders - 2015-01-01 -
Mitochondrial pathology in inclusion body
myositis
Ulrika Lindgren, Sara Roos, Carola Oldfors Hedberg, Ali-Reza Moslemi, Christopher Lindberg, Anders Oldfors
Neuromuscular Disorders - 2015-01-01 -
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1.
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Ali-Reza Moslemi, Mar Tulinius
Mitochondrion - 2015-01-01 -
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers
syndrome.
Kalliopi Sofou, Gittan Kollberg, Maria Holmström, Marcela Davila Lopez, Niklas Darin, Claes M Gustafsson, Elisabeth Holme, Anders Oldfors, Mar Tulinius, Jorge Asin-Cayuela
Molecular genetics & genomic medicine - 2015-01-01 -
LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation
preferences.
Johanna Nilsson, Adnan Halim, Erik Larsson, Ali-Reza Moslemi, Anders Oldfors, Göran Larson, Jonas Nilsson
Biochimica et biophysica acta - 2014-01-01 -
Contrast echocardiography reveals apparently normal coronary perfusion in a rat model of stress-induced (Takotsubo)
cardiomyopathy.
Björn Redfors, Yangzhen Shao, Johannes Wikström, Alexander R Lyon, Anders Oldfors, Li-Ming Gan, Elmir Omerovic
European heart journal cardiovascular Imaging - 2014-01-01 -
Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Mar Tulinius, Ali-Reza Moslemi
Euromit 2014, 15-19 juni, Tampere, Finland - 2014-01-01 -
A New Muscle Glycogen Storage Disease Associated with Glycogenin-1
Deficiency
Edoardo Malfatti, Johanna Nilsson, Carola Hedberg, A. Hernandez-Lain, F. Michel, C. Dominguez-Gonzalez, G. Viennet, H. O. Akman, C. Kornblum, P. Van den Bergh, N. B. Romero, A. G. Engel, S. DiMauro, Anders Oldfors
Annals of Neurology - 2014-01-01 -
Mitochondrial DNA depletion in single fibers in a patient with novel TK2
mutations
Sara Roos, U. Lindgren, C. Ehrstedt, Ali-Reza Moslemi, Anders Oldfors
Neuromuscular Disorders - 2014-01-01 -
Hereditary myopathy with early respiratory failure: occurrence in various
populations.
Johanna Palmio, Anni Evilä, Françoise Chapon, Giorgio Tasca, Fengqing Xiang, Björn Brådvik, Bruno Eymard, Andoni Echaniz-Laguna, Jocelyn Laporte, Mikko Kärppä, Ibrahim Mahjneh, Rosaline Quinlivan, Pascal Laforêt, Maxwell Damian, Andres Berardo, Ana Lia Taratuto, Jose Antonio Bueri, Johanna Tommiska, Taneli Raivio, Matthias Tuerk, Philipp Gölitz, Frederic Chevessier, Caroline Sewry, Fiona Norwood, Carola Hedberg, Rolf Schröder, Lars Edström, Anders Oldfors, Peter Hackman, Bjarne Udd
Journal of neurology, neurosurgery, and psychiatry - 2014-01-01 -
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119
domain.
Carola Hedberg, Atle Melberg, Kathe Dahlbom, Anders Oldfors
Brain : a journal of neurology - 2014-01-01 -
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain
malformations.
Carola Hedberg, Anders Oldfors, Niklas Darin
European Journal of Human Genetics - 2014-01-01 -
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2
mutations.
Homa Tajsharghi, Simon Hammans, Christopher Lindberg, Alexander Lossos, Nigel F Clarke, Ingrid Mazanti, Leigh B Waddell, Yakov Fellig, Nicola Foulds, Haider Katifi, Richard Webster, Olayinka Raheem, Bjarne Udd, Zohar Argov, Anders Oldfors
European journal of human genetics : EJHG - 2014-01-01 -
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119
subdomain
Carola Hedberg, Alejandro Gomez Toledo, Claes M Gustafsson, Göran Larson, Anders Oldfors, Bertil Macao
Neuromuscular Disorders - 2014-01-01 -
Childhood onset tubular aggregate myopathy associated with de novo STIM1
mutations.
Carola Hedberg, Marcello Niceta, Fabiana Fattori, Björn Lindvall, Andrea Ciolfi, Adele D'Amico, Giorgio Tasca, Stefania Petrini, Mar Tulinius, Marco Tartaglia, Anders Oldfors, Enrico Bertini
Journal of neurology - 2014-01-01 -
Normal apical myocardial perfusion in the rat model with Takotsubo syndrome: is subsequent microvascular dysfunction and hypoperfusion an epiphenomenon?
Reply.
Björn Redfors, Yangzhen Shao, Anders Oldfors, Elmir Omerovic
European heart journal cardiovascular Imaging - 2014-01-01 -
Isolated complex I deficiency and atypical clinical courses in three patients due to novel mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Gittan Kollberg, Elisabeth Holme, Mar Tulinius, Anders Oldfors, Ali-Reza Moslemi
European Journal of Paediatric Neurology. 10th EPNS Congress 25-28 September 2013, Brussels, Belgium - 2013-01-01 -
Muscle Biopsy: A Practical
approach
Victor Dubowitz, Caroline Sewry, Anders Oldfors
- 2013-01-01 -
Myosins
Anders Oldfors
Muscle Disease - Pathology and Genetics. Hans H. Goebel, Caroline A. Sewry, Roy O. Weller (Eds.) - 2013-01-01 -
Mitochondrial
Myopathies
Anders Oldfors
Muscle Disease - Pathology and Genetics. Muscle Disease - Pathology and Genetics. Hans H. Goebel, Caroline A. Sewry, Roy O. Weller (Eds.) - 2013-01-01 -
MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome
17p13.1-p12.
Alexander Lossos, Anders Oldfors, Yakov Fellig, Vardiella Meiner, Zohar Argov, Homa Tajsharghi
Brain : a journal of neurology - 2013-01-01 -
Polyglucosan body myopathy caused by defective ubiquitin ligase
RBCK1.
Johanna Nilsson, Benedikt Schoser, Pascal Laforet, Ognian Kalev, Christopher Lindberg, Norma B Romero, Marcela Davila Lopez, Hasan O Akman, Karim Wahbi, Stephan Iglseder, Christian Eggers, Andrew G Engel, Salvatore DiMauro, Anders Oldfors
Annals of neurology - 2013-01-01 -
Subnormal levels of POLgA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external
ophthalmoplegia
Sara Roos, Bertil Macao, Javier Miralles Fusté, Christopher Lindberg, Elisabeth Jemt, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors, Maria Falkenberg
Human Molecular Genetics - 2013-01-01 -
Myosinopathies: pathology and
mechanisms.
Homa Tajsharghi, Anders Oldfors
Acta neuropathologica - 2013-01-01 -
Reply to Brodehl et
al.
Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne, Anders Oldfors
European journal of human genetics : EJHG - 2013-01-01 -
New insights in the field of muscle
glycogenoses
Anders Oldfors, S. DiMauro
Current Opinion in Neurology - 2013-01-01 -
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial
encephalomyopathy.
Sara Roos, Niklas Darin, Gittan Kollberg, Marita Andersson Grönlund, Mar Tulinius, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors
European journal of human genetics : EJHG - 2013-01-01 -
Prognosis and prognostic factors in sporadic inclusion body
myositis.
Christopher Lindberg, Anders Oldfors
Acta neurologica Scandinavica - 2012-01-01 -
Episodes of exercise-induced dark urine and myalgia in LGMD
2I.
Christopher Lindberg, C Sixt, Anders Oldfors
Acta neurologica Scandinavica - 2012-01-01 -
Hereditary myopathy with early respiratory failure associated with a mutation in A-band
titin
Monica Ohlsson, Carola Hedberg, B. Bradvik, Christopher Lindberg, Homa Tajsharghi, O. Danielsson, A. Melberg, B. Udd, Tommy Martinsson, Anders Oldfors
Brain - 2012-01-01 -
Myopathy in a woman and her daughter associated with a novel splice site MTM1
mutation.
Carola Hedberg, Christopher Lindberg, Gyöngyvér Máthé, Ali-Reza Moslemi, Anders Oldfors
Neuromuscular disorders : NMD - 2012-01-01 -
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear
myopathy.
Johann Böhm, Valérie Biancalana, Elizabeth T Dechene, Marc Bitoun, Christopher R Pierson, Elise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S Greenleaf, Melissa A Barger, Lane J Mahoney, Peter B Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz-Laguna, Carina Wallgren-Pettersson, James Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary S B Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, Alain Furby, Jose E Barcena Llona, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin-Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine Mathews, Lori A H Erby, Stephen A Smith, Jennifer Roggenbuck, Carol A Crowe, Allison Brennan Spitale, Sheila C Johal, Anthony A Amato, Laurie A Demmer, Jessica Jonas, Basil T Darras, Thomas D Bird, Mercy Laurino, Selman I Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean-Louis Mandel, Alan H Beggs, Jocelyn Laporte
Human mutation - 2012-01-01 -
Distal arthrogryposis: clinical and genetic
findings.
Eva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, Anders Oldfors, Mar Tulinius
Acta paediatrica (Oslo, Norway : 1992) - 2012-01-01 -
Myopathies associated with beta-tropomyosin
mutations
Homa Tajsharghi, Monica Ohlsson, L. Palm, Anders Oldfors
Neuromuscular Disorders - 2012-01-01 -
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1
mutation.
Johanna Nilsson, Adnan Halim, Ali-Reza Moslemi, Anders Pedersen, Jonas Nilsson, Göran Larson, Anders Oldfors
Biochimica et biophysica acta - 2012-01-01 -
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES
mutation
Carola Hedberg, A. Melberg, A. Kuhl, D. Jenne, Anders Oldfors
European Journal of Human Genetics - 2012-01-01 -
Phenotypic and genotypic variability in Alpers
syndrome.
Kalliopi Sofou, Ali-Reza Moslemi, Gittan Kollberg, Ingibjörg Bjarnadottir, Anders Oldfors, Inger Nennesmo, Elisabeth Holme, Mar Tulinius, Niklas Darin
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 2012-01-01 -
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1
mutations
V. Guergueltcheva, J. Muller, M. Dusl, J. Senderek, Anders Oldfors, C. Lindbergh, S. Maxwell, J. Colomer, C. Mallebrera, A. Nascimento, J. Vilchez, N. Muelas, J. Kirschner, S. Nafissi, A. Kariminejad, Y. Nilipour, B. Bozorgmehr, H. Najmabadi, C. Rodolico, J. Sieb, B. Schlotter, B. Schoser, R. Herrmann, T. Voit, O. Steinlein, A. Najafi, A. Urtizberea, D. Soler, F. Muntoni, M. Hanna, A. Chaouch, V. Straub, K. Bushby, J. Palace, D. Beeson, A. Abicht, H. Lochmuller
Journal of Neurology - 2012-01-01 -
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2
mutation.
Norma Beatriz Romero, Jorge A Bevilacqua, Anders Oldfors, Michel Fardeau
Neuromuscular disorders : NMD - 2011-01-01 -
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission
Defect
J Senderek, JS Muller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, SH Laval, S Maxwell, J Cossins, S Krause, N Muelas, JJ Vilchez, J Colomer, CJ Mallebrera, A Nascimento, S Nafissi, A Kariminejad, Y Nilipour, B Bozorgmehr, H Najmabadi, C Rodolico, JP Sieb, OK Steinlein, B Schlotter, B Schoser, J Kirschner, R Herrmann, T Voit, Anders Oldfors, C Lindbergh, A Urtizberea, M von der Hagen, A Hubner, J Palace, K Bushby, V Straub, D Beeson, A Abicht, H Lochmuller
American journal of human genetics - 2011-01-01 -
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear
myopathies.
Anne Toussaint, Belinda Simone Cowling, Karim Hnia, Michel Mohr, Anders Oldfors, Yannick Schwab, Uluc Yis, Thierry Maisonobe, Tanya Stojkovic, Carina Wallgren-Pettersson, Vincent Laugel, Andoni Echaniz-Laguna, Jean-Louis Mandel, Ichizo Nishino, Jocelyn Laporte
Acta neuropathologica - 2011-01-01 -
Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency
myopathy.
Gittan Kollberg, Atle Melberg, Elisabeth Holme, Anders Oldfors
Neuromuscular disorders - 2011-01-01 -
Neonatal muscular manifestations in mitochondrial
disorders.
Mar Tulinius, Anders Oldfors
Seminars in fetal & neonatal medicine - 2011-01-01 -
Ophthalmological findings in children and young adults with genetically verified mitochondrial
disease
Marita Andersson Grönlund, Antovan Seyedi Honarvar , Susann Andersson, Ali-Reza Moslemi, Anders Oldfors, Elisabeth Holme, Mar Tulinius, Niklas Darin
British Journal of Ophthalmology - 2010-01-01 -
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin-binding protein
C.
Homa Tajsharghi, Trond P Leren, Saba Abdul-Hussein, Mar Tulinius, Leif Brunvand, Hilde M Dahl, Anders Oldfors
Journal of medical genetics - 2010-01-01 -
Ultrastructural study of
muscle
Anders Oldfors
Disorders of voluntary muscle - 2010-01-01 -
Glycogenin-1 deficiency and inactivated priming of glycogen
synthesis.
Ali-Reza Moslemi, Christopher Lindberg, Johanna Nilsson, Homa Tajsharghi, Bert Andersson, Anders Oldfors
The New England journal of medicine - 2010-01-01 -
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2
mutations.
Homa Tajsharghi, David Hilton-Jones, Olayinka Raheem, Anna Maija Saukkonen, Anders Oldfors, Bjarne Udd
Brain : a journal of neurology - 2010-01-01 -
TPM3 mutation in one of the original cases of cap
disease.
Monica Ohlsson, Anna Fidzianska, Homa Tajsharghi, Anders Oldfors
Neurology - 2009-01-01 -
A novel homozygous RRM2B missense mutation in association with severe mtDNA
depletion.
Gittan Kollberg, Niklas Darin, Karin Benan, Ali-Reza Moslemi, Sigurd Lindal, Mar Tulinius, Anders Oldfors, Elisabeth Holme
Neuromuscular disorders : NMD - 2009-01-01 -
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency
myopathy.
Gittan Kollberg, Mar Tulinius, Atle Melberg, Niklas Darin, Oluf Andersen, Daniel Holmgren, Anders Oldfors, Elisabeth Holme
Brain : a journal of neurology - 2009-01-01 -
Molecular basis of infantile reversible cytochrome c oxidase deficiency
myopathy.
Rita Horvath, John P Kemp, Helen A L Tuppen, Gavin Hudson, Anders Oldfors, Suely K N Marie, Ali-Reza Moslemi, Serenella Servidei, Elisabeth Holme, Sara Shanske, Gittan Kollberg, Parul Jayakar, Angela Pyle, Harold M Marks, Elke Holinski-Feder, Mena Scavina, Maggie C Walter, Jorida Coku, Andrea Günther-Scholz, Paul M Smith, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Robert N Lightowlers, Michio Hirano, Hanns Lochmüller, Robert W Taylor, Patrick F Chinnery, Mar Tulinius, Salvatore DiMauro
Brain : a journal of neurology - 2009-01-01 -
A patient with two mitochondrial DNA mutations causing PEO and
LHON.
Atle Melberg, Ali-Reza Moslemi, Oscar Palm, Raili Raininko, Erik Stålberg, Anders Oldfors
European journal of medical genetics - 2009-01-01 -
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear
myopathy.
Jorge A Bevilacqua, Marc Bitoun, Valérie Biancalana, Anders Oldfors, Gisela Stoltenburg, Kristl G Claeys, Emmanuelle Lacène, Guy Brochier, Linda Manéré, Pascal Laforêt, Bruno Eymard, Pascale Guicheney, Michel Fardeau, Norma Beatriz Romero
Acta neuropathologica - 2009-01-01 -
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists
postnatally.
Homa Tajsharghi, Eva Kimber, Anna-Karin Kroksmark, Ragnar Jerre, Mar Tulinius, Anders Oldfors
Archives of neurology - 2008-01-01 -
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2)
mutations.
Monica Ohlsson, S Quijano-Roy, Niklas Darin, G Brochier, E Lacène, D Avila-Smirnow, M Fardeau, Anders Oldfors, Homa Tajsharghi
Neurology - 2008-01-01 -
Progressive encephalopathy and complex I deficiency associated with mutations in
MTND1.
Ali-Reza Moslemi, Niklas Darin, Mar Tulinius, L. M. Wiklund, Elisabeth Holme, Anders Oldfors
Neuropediatrics - 2008-01-01 -
MELAS syndrome in a patient with a point mutation in
MTTS1.
Christopher Lindberg, Ali-Reza Moslemi, Anders Oldfors
Acta neurologica Scandinavica - 2008-01-01 -
Thick filament
diseases
Anders Oldfors, Phillipa Lamont
In: The Sarcomere and skeletal muscle disease. Laing N (Ed) Series: Advances in Experimental Medicine and Biology Series Editors: Back N, Cohen IR, Lajtha A, Lambris JD, Paoletti R. Volume 642 - 2008-01-01 -
Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin
mutation.
Julien Ochala, Meishan Li, Monica Ohlsson, Anders Oldfors, Lars Larsson
The Journal of physiology - 2008-01-01 -
Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle
fibres
Julien Ochala, Mingxin Li, Homa Tajsharghi, Eva Kimber, Mar Tulinius, Anders Oldfors, Lars Larsson
J Physiol - 2007-01-01 -
Inflammation and response to steroid treatment in limb-girdle muscular dystrophy
2I
Niklas Darin, Anna-Karin Kroksmark, Anne-Christine Åhlander, Ali-Reza Moslemi, Anders Oldfors, Mar Tulinius
Eur J Paediatr Neurol - 2007-01-01 -
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease
0.
Gittan Kollberg, Mar Tulinius, Thomas Gilljam, Ingegerd Östman-Smith, Gun Forsander, Peter Jotorp, Anders Oldfors, Elisabeth Holme
The New England journal of medicine - 2007-01-01 -
Mitochondrial
encephalomyopathies
Anders Oldfors, Mar Tulinius
Handbook of Clinical Neurology - 2007-01-01 -
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin
mutation
Homa Tajsharghi, Eva Kimber, Daniel Holmgren, Mar Tulinius, Anders Oldfors
Neurology - 2007-01-01 -
Myosin storage myopathy with
cardiomyopathy
Homa Tajsharghi, Anders Oldfors, M. Swash
Neuromuscul Disord - 2007-01-01 -
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene
(TPM2)
Homa Tajsharghi, Monica Ohlsson, Christopher Lindberg, Anders Oldfors
Arch Neurol - 2007-01-01 -
Homozygous mutation in MYH7 in myosin storage myopathy and
cardiomyopathy
Homa Tajsharghi, Anders Oldfors, D. P. Macleod, M. Swash
Neurology - 2007-01-01 -
New skeletal myopathy and cardiomyopathy associated with a missense mutation in
MYH7
Niklas Darin, Homa Tajsharghi, Ingegerd Östman-Smith, Thomas Gilljam, Anders Oldfors
Neurology - 2007-01-01 -
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear
myopathy
A. S. Nicot, A. Toussaint, V. Tosch, C. Kretz, C. Wallgren-Pettersson, E. Iwarsson, H. Kingston, J. M. Garnier, V. Biancalana, Anders Oldfors, J. L. Mandel, J. Laporte
Nat Genet - 2007-01-01 -
Hereditary myosin
myopathies
Anders Oldfors
Neuromuscul Disord - 2007-01-01 -
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation
deficiency.
Rikke K J Olsen, Simon E Olpin, Brage S Andresen, Zofia H Miedzybrodzka, Morteza Pourfarzam, Begoña Merinero, Frank E Frerman, Michael W Beresford, John C S Dean, Nanna Cornelius, Oluf Andersen, Anders Oldfors, Elisabeth Holme, Niels Gregersen, Douglass M Turnbull, Andrew A M Morris
Brain : a journal of neurology - 2007-01-01 -
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal
arthrogryposis
Eva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, Anders Oldfors, Mar Tulinius
Neurology - 2006-01-01 -
Mitochondrial abnormalities in inclusion-body
myositis
Anders Oldfors, Ali-Reza Moslemi, L Jonasson, Monica Ohlsson, Gittan Kollberg, Christopher Lindberg
Neurology - 2006-01-01 -
Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to
Lys)
M. Li, A. Lionikas, F. Yu, Homa Tajsharghi, Anders Oldfors, Lars Larsson
Neuromuscul Disord - 2006-01-01 -
A mutation in the fast skeletal muscle Troponin I gene causes myopathy and distal
arthrogryposis
Eva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, Anders Oldfors, Mar Tulinius
Neuromusc Disord - 2006-01-01 -
POLG1 mutations associated with progressive encephalopathy in
childhood.
Gittan Kollberg, Ali-Reza Moslemi, Niklas Darin, Inger Nennesmo, Ingibjörg Bjarnadottir, Paul Uvebrant, Elisabeth Holme, Atle Melberg, Mar Tulinius, Anders Oldfors
Journal of neuropathology and experimental neurology - 2006-01-01 -
Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe)
gene
Niklas Darin, Gittan Kollberg, Ali-Reza Moslemi, Mar Tulinius, Elisabeth Holme, Marita Andersson Grönlund, S Andersson, Anders Oldfors
Neuromuscular disorders : NMD - 2006-01-01 -
A novel missense mutation in TPM2 associated with muscle weakness and distal
arthrogryposis
Homa Tajsharghi, Eva Kimber, Mar Tulinius, Anders Oldfors
Neuromusc Disord - 2006-01-01 -
Cardiac fibrosis triggered by the kidney: a case
report
Aso Saeed, Gregor Guron, Anders Oldfors, Björn Lindelöw, Hans Herlitz
Nephrol Dial Transplant - 2006-01-01 -
A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise
intolerance
J A Mayr, Ali-Reza Moslemi, Holger Förster, Adrian Kamper, Carmen Idriceanu, W Muss, Michael Huemer, Anders Oldfors, W Sperl
Neuromuscul Disord - 2006-01-01 -
Mitochondrial (mt)DNA changes in tissue may not be reflected by depletion of mtDNA in peripheral blood mononuclear cells in HIV-infected
patients
A. Maagaard, M. Holberg-Petersen, Gittan Kollberg, Anders Oldfors, L. Sandvik, JM Bruun
Antivir Ther - 2006-01-01 -
Raised troponin T in inclusion body myositis is common and serum levels are persistent over
time
Christopher Lindberg, L. Klintberg, Anders Oldfors
Neuromuscul Disord - 2006-01-01 -
Mutation of the slow myosin heavy chain rod domain underlies hyaline body
myopathy
Anders Oldfors, Homa Tajsharghi, L. E. Thornell
Neurology - 2005-01-01 -
A Caenorhabditis elegans model of the myosin heavy chain IIa E706R
mutation.
Homa Tajsharghi, Marc Pilon, Anders Oldfors
Annals of Neurology - 2005-01-01 -
Early onset myopathy with a novel mutation in the Selenoprotein N gene
(SEPN1)
Homa Tajsharghi, Niklas Darin, Mar Tulinius, Anders Oldfors
Neuromuscul Disord - 2005-01-01 -
Two new mutations in the MTATP6 gene associated with Leigh
syndrome.
Ali-Reza Moslemi, Niklas Darin, Mar Tulinius, Anders Oldfors, Elisabeth Holme
Neuropediatrics - 2005-01-01 -
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA
depletion.
Mar Tulinius, Ali-Reza Moslemi, Niklas Darin, Elisabeth Holme, Anders Oldfors
Neuromuscular disorders : NMD - 2005-01-01 -
Mutations and sequence variation in the human myosin heavy chain IIa gene
(MYH2)
Homa Tajsharghi, Niklas Darin, Elham Rekabdar, Mårten Kyllerman, Jan Wahlström, Tommy Martinsson, Anders Oldfors
Eur J Hum Genet - 2005-01-01 -
Diagnosis, pathogenesis and treatment of inclusion body
myositis
Anders Oldfors, Christopher Lindberg
Curr Opin Neurol - 2005-01-01 -
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just
coincidence?
Atle Melberg, Inger Nennesmo, Ali-Reza Moslemi, Gittan Kollberg, Petri Luoma, Anu Suomalainen, Elisabeth Holme, Anders Oldfors
Acta neuropathologica - 2005-01-01 -
Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial
DNA
Mikko Kärppä, Ritta Herva, Ali-Reza Moslemi, Anders Oldfors, Sakari Kakko, Kari Majamaa
Brain - 2005-01-01 -
Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit
I.
Gittan Kollberg, Ali-Reza Moslemi, Christopher Lindberg, Elisabeth Holme, Anders Oldfors
Journal of neuropathology and experimental neurology - 2005-01-01 -
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1
mutations.
Gittan Kollberg, Monica Jansson, Åsa Pérez-Bercoff, Atle Melberg, Christopher Lindberg, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors
European journal of human genetics : EJHG - 2005-01-01 -
Premature ageing in mice expressing defective mitochondrial DNA
polymerase
A. Trifunovic, A. Wredenberg, Maria Falkenberg, J. N. Spelbrink, A. T. Rovio, C. E. Bruder, Mohammad Bohlooly-Yeganeh, S. Gidlof, Anders Oldfors, R. Wibom, J. Tornell, H. T. Jacobs, N. G. Larsson
Nature - 2004-01-01 -
The effects of endurance training in persons with a hereditary myosin
myopathy
Katharina Stibrant Sunnerhagen, Niklas Darin, Homa Tajsharghi, Anders Oldfors
Acta Neurol Scand - 2004-01-01 -
Induced shift in myosin heavy chain expression in myosin myopathy by endurance
training
Homa Tajsharghi, Katharina Stibrant Sunnerhagen, Niklas Darin, Mårten Kyllerman, Anders Oldfors
J Neurol - 2004-01-01 -
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene
(ACTA1)
Monica Ohlsson, Homa Tajsharghi, Niklas Darin, Mårten Kyllerman, Anders Oldfors
Neuromuscul Disord - 2004-01-01 -
Mitochondrial
Disorders
Anders Oldfors, Mar Tulinius
Developmental Neuropathology - 2004-01-01 -
Myopathies associated with myosin heavy chain
mutations
Anders Oldfors, Homa Tajsharghi, Niklas Darin, Christopher Lindberg
Acta Myol - 2004-01-01 -
A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial
myopathy
Ali-Reza Moslemi, Christopher Lindberg, J. Toft, Elisabeth Holme, Gittan Kollberg, Anders Oldfors
Neuromuscul Disord - 2004-01-01 -
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic
study
Petri Luoma, Atle Melberg, J. O. Rinne, J. A. Kaukonen, N. N. Nupponen, R. M. Chalmers, Anders Oldfors, I. Rautakorpi, L. Peltonen, Kari Majamaa, H. Somer, Anu Suomalainen
Lancet - 2004-01-01 -
Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in
blood.
Massoud Houshmand, Ann Gardner, Tore Hällström, Kristina Müntzing, Anders Oldfors, Elisabeth Holme
Neuromuscular disorders : NMD - 2004-01-01 -
Myosin storage myopathy associated with a heterozygous missense mutation in
MYH7.
Homa Tajsharghi, Lars-Eric Thornell, Christopher Lindberg, Björn Lindvall, Karl-Gösta Henriksson, Anders Oldfors
Annals of neurology - 2003-01-01 -
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with
age.
Homa Tajsharghi, Lars-Eric Thornell, Niklas Darin, Tommy Martinsson, Mårten Kyllerman, Jan Wahlström, Anders Oldfors
Neurology - 2002-01-01 -
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa
gene.
Tommy Martinsson, Anders Oldfors, Niklas Darin, Kerstin Berg, Homa Tajsharghi, Mårten Kyllerman, J. Wahlstrom
Proceedings of the National Academy of Sciences of the United States of America - 2000-01-01