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Carola Hedberg Oldfors
Researcher
Department of Laboratory-
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 -
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 -
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 -
Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical
phenotypes
Igal Rosenstein, Oluf Andersen, Daniel Victor, Elisabet Englund, Tobias Granberg, Carola Oldfors Hedberg, Katarina Jood, Yusran Ady Fitrah, Takeshi Ikeuchi, Virginija Danylaité Karrenbauer
Acta Neurologica Scandinavica - 2022 -
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic
myopathy
M. Schwantje, M. S. Ebberink, M. Doolaard, J. P. N. Ruiter, S. A. Fuchs, Niklas Darin, Carola Oldfors Hedberg, L. Regal, L. D. Kaat, H. H. Huidekoper, S. Olpin, D. Cole, S. J. Moat, G. Visser, S. Ferdinandusse
Journal of Inherited Metabolic Disease - 2022 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this
region
Carola Oldfors Hedberg, Diego Garcia Dios, Anna Linder, Kittichate Visuttijai, Emma Samuelson, S. Karlsson, Staffan Nilsson, A. Behboudi
BMC Genetics - 2015 -
Polyglucosan storage
myopathies
Carola Oldfors Hedberg, Anders Oldfors
Molecular Aspects of Medicine - 2015 -
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 -
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 -
Mitochondrial pathology in inclusion body
myositis
Ulrika Lindgren, Sara Roos, Carola Oldfors Hedberg, Ali-Reza Moslemi, Christopher Lindberg, Anders Oldfors
Neuromuscular Disorders - 2015 -
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 -
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 -
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 -
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain
malformations.
Carola Hedberg, Anders Oldfors, Niklas Darin
European Journal of Human Genetics - 2014 -
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 -
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 -
Reply to Brodehl et
al.
Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne, Anders Oldfors
European journal of human genetics : EJHG - 2013 -
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 -
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 -
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 -
SKY analysis revealed recurrent numerical and structural chromosome changes in BDII rat endometrial
carcinomas.
Eva Falck, Carola Hedberg, Karin Klinga-Levan, Afrouz Behboudi
Cancer cell international - 2011 -
Molecular classification of spontaneous endometrial adenocarcinomas in BDII
rats.
Emma Samuelson, Carola Hedberg, Staffan Nilsson, Afrouz Behboudi
Endocrine-related cancer - 2009 -
Novel Tumor Suppressor Gene Candidates in Experimental Endometrial Carcinoma - From Cytogenetic to Molecular
Analysis
Carola Hedberg
2009 -
Amplification studies of Met and Cdk6 in a rat endometrial tumor model and the correlation to human endometrial carcinoma
tumors.
Emma Samuelson, Carola Nordlander, Göran Levan, Afrouz Behboudi
Hormonal Carcinogenesis 5 - 2008 -
Recurrent chromosome 10 aberrations and Tp53 mutations in rat endomtrial adenocarcinomas and an indication of a putative tumor supressor region disal to
Tp53
Carola Nordlander, Emma Samuelson, Karin Klinga-Levan, Afrouz Behboudi
Hormonal Carcinogenesis 5 - 2008 -
Analysis of chromosome 10 aberrations in rat endometrial cancer-evidence for a tumor suppressor locus distal to
Tp53.
Carola Nordlander, Sandra Karlsson, Åsa Karlsson, Åsa Sjöling, Marta Winnes, Karin Klinga-Levan, Afrouz Behboudi
International journal of cancer. Journal international du cancer - 2007 -
Deriving evolutionary tree models of the oncogenesis of endometrial
adenocarcinoma.
Lei Chen, Carola Nordlander, Afrouz Behboudi, Björn Olsson, Karin Klinga-Levan
International journal of cancer. Journal international du cancer - 2007 -
Assessment of allele dosage at polymorphic microsatellite loci displaying allelic imbalance in tumors by means of quantitative competitive-polymerase chain
reaction.
Åsa Sjöling, Anna Walentinsson, Carola Nordlander, Åsa Karlsson, Afrouz Behboudi, Emma Samuelson, Göran Levan, Dan Röhme
Cancer genetics and cytogenetics - 2005 -
Allelic imbalance on chromosome 10 in rat endometrial
adenocarcinomas.
Carola Nordlander, Afrouz Behboudi, Göran Levan, Karin Klinga-Levan
Cancer genetics and cytogenetics - 2005 -
Male and female germline specific expression of an EGFP reporter gene in a unique strain of transgenic
rats
J. T. Cronkhite, Carola Nordlander, J. K. Furth, Göran Levan, D. L. Garbers, R. E. Hammer
Dev Biol - 2005