List of works - Anders Oldfors

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy ⬇️

scientific article published on July 11, 2012

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

scientific article published on 14 December 2020

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation ⬇️

scientific article published on March 7, 2012

Contrast echocardiography reveals apparently normal coronary perfusion in a rat model of stress-induced (Takotsubo) cardiomyopathy ⬇️

scientific article published on 05 July 2013

Distal arthrogryposis: clinical and genetic findings ⬇️

scientific article published on May 24, 2012

Episodes of exercise-induced dark urine and myalgia in LGMD 2I ⬇️

scientific article published on October 27, 2011

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

scientific article published on 15 February 2014

Inclusion body myositis: genetic factors, aberrant protein expression, and autoimmunity ⬇️

scientific article published on November 1, 2001

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12 ⬇️

scientific article published on February 6, 2013

Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing

scientific article published on 22 December 2020

Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation ⬇️

scientific article published on December 9, 2011

Myopathies associated with β-tropomyosin mutations ⬇️

scientific article published on June 29, 2012

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation ⬇️

scientific article published on November 18, 2011

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7 ⬇️

scientific article published on October 1, 2003

Myosinopathies: pathology and mechanisms ⬇️

scientific article published on 05 August 2012

Neonatal muscular manifestations in mitochondrial disorders ⬇️

scientific article published on May 18, 2011

Oligoclonal expansion of muscle infiltrating T cells in inclusion body myositis ⬇️

scientific article published on 01 November 1997

Permeability of the perineurium of small nerve fascicles: an ultrastructural study using ferritin in rats ⬇️

scientific article published on 01 May 1981

Phenotypic and genotypic variability in Alpers syndrome ⬇️

scientific article published on January 10, 2012

Prognosis and prognostic factors in sporadic inclusion body myositis ⬇️

scientific article published on September 14, 2011

Progressive external ophthalmoplegia associated with novel MT-TN mutations

scientific article published on 31 August 2020

Reply to Brodehl et al ⬇️

scientific article published on October 3, 2012

Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia ⬇️

scientific article published on 01 January 1998

The localization of amyloid precursor protein to ependymal cilia in vertebrates and its role in ciliogenesis and brain development in zebrafish

scientific article published on 27 September 2021

Threshold expression of the tRNALys A8344G mutation in single muscle fibres ⬇️

scientific article published on June 1, 1998

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy ⬇️

scientific article published on December 31, 2010

Upregulation of Fas/Fas ligand in inclusion body myositis ⬇️