Carola Hedberg-Oldfors (C Hedberg-Oldfors)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 8

Top Topics

Intellectual Disability

Skeletal Muscle

Myasthenia Gravis

Top Venues

Acta neurologica Scandinavica

Neuropathology and applied neurobiology

Journal of neurology

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Kittichate Visuttijai, Carola Hedberg-Oldfors, Daniel J Costello, Niamh Bermingham, Anders Oldfors
Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle. Neuropathology and applied neurobiology 50 (3) (2024)
Carola Hedberg-Oldfors, Sanhita Mitra, Angela Molinaro, Kittichate Visuttijai, Linda Fogelstrand, Anders Oldfors, Fredrik H Sterky, Niklas Darin
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia. European journal of human genetics : EJHG (2023)
Ulrika Lindgren, Carola Hedberg-Oldfors, Rille Pullerits, Christopher Lindberg, Anders Oldfors
Inclusion body myositis with early onset: a population-based study. Journal of neurology (2023)
Carola Hedberg-Oldfors, Ulrika Lindgren, Kittichate Visuttijai, Daniel Lööf, Sara Roos, Christer Thomsen, Anders Oldfors
Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion. Neuropathology and applied neurobiology 48 (7) (2022)
Carola Hedberg-Oldfors, Ulrika Lindgren, Swaraj Basu, Kittichate Visuttijai, Christopher Lindberg, Maria Falkenberg, Erik Larsson Lekholm, Anders Oldfors
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing. Brain pathology (Zurich, Switzerland) 31 (3) (2022)
Igal Rosenstein, Oluf Andersen, Daniel Victor, Elisabet Englund, Tobias Granberg, Carola Hedberg-Oldfors, Katharina Jood, Yusran Ady Fitrah, Takeshi Ikeuchi, Virginija Danylaité Karrenbauer
Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes. Acta neurologica Scandinavica 145 (5) (2022)
Kittichate Visuttijai, Carola Hedberg-Oldfors, Ulrika Lindgren, Sara Nordström, Olöf Eliasdottir, Christopher Lindberg, Anders Oldfors
Progressive external ophthalmoplegia associated with novel MT-TN mutations. Acta neurologica Scandinavica 143 (1) (2020)
Carola Hedberg-Oldfors, A Mensch, K Visuttijai, G Stoltenburg, D Stoevesandt, T Kraya, A Oldfors, S Zierz
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation. Acta neurologica Scandinavica 137 (3) (2017)