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2024
Mark Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency
Hedberg-Oldfors, Carola ^LU ; Lindgren, Ulrika ; Visuttijai, Kittichate ; Shen, Yan ; Ilinca, Andreea ^LU ; Nordström, Sara ; Lindberg, Christopher and Oldfors, Anders (2024) In Acta Neuropathologica 148(1).
- Contribution to journal › Article
2022
Mark Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2
Hedberg-Oldfors, Carola ; Elíasdóttir, Ólöf ; Geijer, Mats ^LU ; Lindberg, Christopher and Oldfors, Anders (2022) In BMC Neurology 22(1).
- Contribution to journal › Article
2020
Mark Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles
Hedberg-Oldfors, Carola ; Meyer, Robert ; Nolte, Kay ; Abdul Rahim, Yassir ^LU ; Lindberg, Christopher ; Karason, Kristjan ; Thuestad, Inger Johanne ; Visuttijai, Kittichate ; Geijer, Mats ^LU and Begemann, Matthias , et al. (2020) In Brain : a journal of neurology 143(8). p.2406-2420
- Contribution to journal › Article
2019
Mark Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis
Dahlbom, Kathe ; Geijer, Mats ^LU ; Oldfors, Anders and Lindberg, Christopher (2019) In Acta Neurologica Scandinavica 139(2). p.177-182
- Contribution to journal › Article
Mark 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
Meinert, Monika ^LU ; Englund, Elisabet ^LU ; Hedberg-Oldfors, Carola ; Oldfors, Anders ; Kornhall, Björn ^LU ; Lundin, Catarina ^LU and Wittström, Elisabeth ^LU (2019) In Ophthalmic Genetics 40(3). p.227-236
- Contribution to journal › Article
Mark TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
Jennions, Elizabeth ; Hedberg-Oldfors, Carola ; Berglund, Anna Karin ; Kollberg, Gittan ; Törnhage, Carl Johan ; Eklund, Erik A. ^LU ; Oldfors, Anders ; Verloo, Patrick ; Vanlander, Arnaud V. and De Meirleir, Linda , et al. (2019) In Journal of Inherited Metabolic Disease 42(5). p.898-908
- Contribution to journal › Article
2017
Mark Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease
Westerlund, Emil ^LU ; Marelsson, Sigurður E ^LU ; Ehinger, Johannes K ^LU ; Sjövall, Fredrik ^LU ; Morota, Saori ^LU ; Åsander Frostner, Eleonor ^LU ; Oldfors, Anders ; Darin, Niklas ; Lundgren, Johan ^LU and Hansson, Magnus J ^LU , et al. (2017) In Pediatric Research 83. p.455-465
- Contribution to journal › Article
2014
Mark Hereditary myopathy with early respiratory failure: occurrence in various populations
Palmio, Johanna ; Evila, Anni ; Chapon, Francoise ; Tasca, Giorgio ; Xiang, Fengqing ; Brådvik, Björn ^LU ; Eymard, Bruno ; Echaniz-Laguna, Andoni ; Laporte, Jocelyn and Karppa, Mikko , et al. (2014) In Journal of Neurology, Neurosurgery and Psychiatry 85(3). p.345-353
- Contribution to journal › Article
2012
Mark Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
Ohlsson, Monica ; Hedberg, Carola ; Brådvik, Björn ^LU ; Lindberg, Christopher ; Tajsharghi, Homa ; Danielsson, Olof ; Melberg, Atle ; Udd, Bjarne ; Martinsson, Tommy and Oldfors, Anders (2012) In Brain 135(6). p.1682-1694
- Contribution to journal › Article

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