Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 C Hedberg-Oldfors, A Abramsson, DPS Osborn, O Danielsson, ... Human Molecular Genetics 28 (11), 1919-1929, 2019 | 40 | 2019 |
Lowered Expression of Tumor Suppressor Candidate MYO1C Stimulates Cell Proliferation, Suppresses Cell Adhesion and Activates AKT K Visuttijai, J Pettersson, Y Mehrbani Azar, I van den Bout, C Örndal, ... PLoS One 11 (10), e0164063, 2016 | 31 | 2016 |
Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region C Hedberg Oldfors, DG Dios, A Linder, K Visuttijai, E Samuelson, ... BMC genetics 16, 1-13, 2015 | 29 | 2015 |
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing C Hedberg‐Oldfors, U Lindgren, S Basu, K Visuttijai, C Lindberg, ... Brain Pathology 31 (3), e12931, 2021 | 21 | 2021 |
Glycogenin is dispensable for glycogen synthesis in human muscle, and glycogenin deficiency causes polyglucosan storage K Visuttijai, C Hedberg-Oldfors, C Thomsen, E Glamuzina, C Kornblum, ... The Journal of Clinical Endocrinology & Metabolism 105 (2), 557-566, 2020 | 20 | 2020 |
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles C Hedberg-Oldfors, R Meyer, K Nolte, Y Abdul Rahim, C Lindberg, ... Brain 143 (8), 2406-2420, 2020 | 18 | 2020 |
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation C Hedberg‐Oldfors, A Mensch, K Visuttijai, G Stoltenburg, D Stoevesandt, ... Acta Neurologica Scandinavica 137 (3), 308-315, 2018 | 17 | 2018 |
Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations E Michael, C Hedberg-Oldfors, P Wilmar, K Visuttijai, A Oldfors, N Darin Neuromuscular Disorders 29 (2), 108-113, 2019 | 12 | 2019 |
Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion C Hedberg‐Oldfors, U Lindgren, K Visuttijai, D Lööf, S Roos, C Thomsen, ... Neuropathology and Applied Neurobiology 48 (7), e12841, 2022 | 10 | 2022 |
Progressive external ophthalmoplegia associated with novel MT‐TN mutations K Visuttijai, C Hedberg‐Oldfors, U Lindgren, S Nordström, Ó Elíasdóttir, ... Acta Neurologica Scandinavica 143 (1), 103-108, 2021 | 10 | 2021 |
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency C Hedberg-Oldfors, W De Ridder, O Kalev, K Böck, K Visuttijai, ... Neuromuscular Disorders 29 (12), 951-960, 2019 | 8 | 2019 |
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male C Hedberg-Oldfors, K Visuttijai, A Topa, M Tulinius, A Oldfors Neuromuscular Disorders 27 (9), 843-847, 2017 | 7 | 2017 |
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia C Hedberg-Oldfors, S Mitra, A Molinaro, K Visuttijai, L Fogelstrand, ... European Journal of Human Genetics 31 (8), 887-894, 2023 | 6 | 2023 |
Chitooligosaccharide prevents vascular endothelial cell apoptosis by attenuation of endoplasmic reticulum stress via suppression of oxidative stress through Nrf2-SOD1 up-regulation ZZ Ei, P Hutamekalin, P Prommeenate, A Singh, S Benjakul, K Visuttijai, ... Pharmaceutical Biology 60 (1), 2155-2166, 2022 | 3 | 2022 |
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m. 14674T> C variant S Roos, C Hedberg‐Oldfors, K Visuttijai, M Stein, G Kollberg, Ó Elíasdóttir, ... Brain Pathology 32 (4), e13038, 2022 | 3 | 2022 |
Structural modification of resveratrol analogue exhibits anticancer activity against lung cancer stem cells via suppression of Akt signaling pathway S Thongsom, S Racha, K Petsri, ZZ Ei, K Visuttijai, S Moriue, M Yokoya, ... BMC Complementary Medicine and Therapies 23 (1), 183, 2023 | 2 | 2023 |
Shrimp Lipid Prevents Endoplasmic Reticulum-Mediated Endothelial Cell Damage ZZ Ei, S Benjakul, N Buamard, K Visuttijai, P Chanvorachote Foods 11 (19), 3076, 2022 | 2 | 2022 |
Potential Natural Products Regulation of Molecular Signaling Pathway in Dermal Papilla Stem Cells ZC Soe, ZZ Ei, K Visuttijai, P Chanvorachote Molecules 28 (14), 5517, 2023 | 1 | 2023 |
P344 Immunohistochemical characterization of polyglucosan in heart and muscle in glycogenin-1 deficiency K Visuttijai, C Hedberg-Oldfors, N Bermingham, D Costello, E Englund, ... Neuromuscular Disorders 33, S181, 2023 | | 2023 |
P. 78 Skeletal myopathy or cardiomyopathy in glycogenin-1 deficiency-Two sides of the coin K Visuttijai, C Hedberg-Oldfors, N Bermingham, D Costello, E Englund, ... Neuromuscular Disorders 32, S74, 2022 | | 2022 |