Anders Oldfors

Summary

Country: Sweden

Publications

  1. ncbi request reprint Hereditary myosin myopathies
    Anders Oldfors
    Department of Pathology, Sahlgrenska University Hospital, S 413 45 Goteborg, Sweden
    Neuromuscul Disord 17:355-67. 2007
  2. doi request reprint New insights in the field of muscle glycogenoses
    Anders Oldfors
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
    Curr Opin Neurol 26:544-53. 2013
  3. doi request reprint A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Straket 16, SE 413 45 Goteborg, Sweden
    Neuromuscul Disord 19:147-50. 2009
  4. ncbi request reprint POLG1 mutations associated with progressive encephalopathy in childhood
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 65:758-68. 2006
  5. doi request reprint Phenotypic and genotypic variability in Alpers syndrome
    Kalliopi Sofou
    Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, S 416 85 Gothenburg, Sweden
    Eur J Paediatr Neurol 16:379-89. 2012
  6. doi request reprint Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, SE 41345 Goteborg, Sweden
    Brain 132:2170-9. 2009
  7. doi request reprint Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
    Monica Ohlsson
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE 413 45 Gothenburg, Sweden
    Brain 135:1682-94. 2012
  8. doi request reprint Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations
    Homa Tajsharghi
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden
    Brain 133:1451-9. 2010
  9. doi request reprint Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]
    Sara Roos
    Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gula straket 8, Gothenburg SE 413 45, Sweden
    Hum Mol Genet 22:2411-22. 2013
  10. ncbi request reprint Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 64:123-8. 2005

Collaborators

Detail Information

Publications45

  1. ncbi request reprint Hereditary myosin myopathies
    Anders Oldfors
    Department of Pathology, Sahlgrenska University Hospital, S 413 45 Goteborg, Sweden
    Neuromuscul Disord 17:355-67. 2007
    ..Clinical findings, muscle morphology and molecular genetics in hereditary myosin myopathies are summarized in this review...
  2. doi request reprint New insights in the field of muscle glycogenoses
    Anders Oldfors
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
    Curr Opin Neurol 26:544-53. 2013
    ..This review highlights recent contributions regarding clinical heterogeneity, pathogenic mechanisms, therapeutic trials, and animal models of the muscle glycogenoses...
  3. doi request reprint A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Straket 16, SE 413 45 Goteborg, Sweden
    Neuromuscul Disord 19:147-50. 2009
    ..This is the third report on mutations in RRM2B associated with severe mtDNA depletion, which further highlights the importance of de novo synthesis of deoxyribonucleotides (dNTPs) for mtDNA maintenance...
  4. ncbi request reprint POLG1 mutations associated with progressive encephalopathy in childhood
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 65:758-68. 2006
    ..The results support the concept that deletions as well as depletion of mtDNA are involved in the pathogenesis of Alpers-Huttenlocher syndrome and add 3 new POLG1 mutations associated with an early-onset neurodegenerative disease...
  5. doi request reprint Phenotypic and genotypic variability in Alpers syndrome
    Kalliopi Sofou
    Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, S 416 85 Gothenburg, Sweden
    Eur J Paediatr Neurol 16:379-89. 2012
    ..Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1...
  6. doi request reprint Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, SE 41345 Goteborg, Sweden
    Brain 132:2170-9. 2009
    ..There was only a slight reduction of mitochondrial IscU in the compound heterozygotes, despite their severe phenotype, indicating that the IscU expressed in these patients is non-functional...
  7. doi request reprint Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
    Monica Ohlsson
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE 413 45 Gothenburg, Sweden
    Brain 135:1682-94. 2012
    ..The typical histopathological features with prominent myofibrillar lesions and inclusions in muscle and respiratory failure early in the clinical course should be incentives for analysis of TTN mutations...
  8. doi request reprint Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations
    Homa Tajsharghi
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden
    Brain 133:1451-9. 2010
    ..The relatively mild phenotype is interesting in relation to the more severe phenotypes generally seen in relation to recessive null mutations in sarcomeric proteins...
  9. doi request reprint Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]
    Sara Roos
    Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gula straket 8, Gothenburg SE 413 45, Sweden
    Hum Mol Genet 22:2411-22. 2013
    ..Our findings, thus, suggest a molecular mechanism explaining how POLγ mutations can cause mtDNA deletions in vivo...
  10. ncbi request reprint Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 64:123-8. 2005
    ....
  11. ncbi request reprint Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
    N Engl J Med 357:1507-14. 2007
    ..In muscle-biopsy specimens obtained from the two younger siblings, there was lack of glycogen, predominance of oxidative fibers, and mitochondrial proliferation. Glucose tolerance was normal...
  12. pmc A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy
    Sara Roos
    Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
    Eur J Hum Genet 21:571-3. 2013
    ..This mutation adds to the three previously described disease-causing mutations in tRNA(Arg), but it is the first mutation occurring in the anticodon of tRNA(Arg)...
  13. doi request reprint Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
    Ali Reza Moslemi
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
    N Engl J Med 362:1203-10. 2010
    ..The missense mutation resulted in inactivation of the autoglucosylation of glycogenin-1 that is necessary for the priming of glycogen synthesis in muscle...
  14. ncbi request reprint Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, SE 413 45 Goteborg, Sweden
    Neurology 68:962. 2007
  15. doi request reprint Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE 41345 Gothenburg, Sweden
    Neuromuscul Disord 21:115-20. 2011
    ..The results have implications for diagnosis of the disease based on muscle biopsy findings and support the concept that an increase of normally spliced ISCU by RNA modulating therapy may be a therapeutic possibility for these patients...
  16. ncbi request reprint Induced shift in myosin heavy chain expression in myosin myopathy by endurance training
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, 41345, Goteborg, Sweden
    J Neurol 251:179-83. 2004
    ..We conclude that endurance training in patients with myosin myopathy may be an important way to alter the expression of defective MyHC isoforms...
  17. doi request reprint Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation
    Johanna Nilsson
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
    Biochim Biophys Acta 1822:493-9. 2012
    ..Our results explain the glycogen depletion in the patient expressing only Thr83Met glycogenin-1 and why heterozygous carriers without clinical symptoms show a small proportion of unglucosylated glycogenin-1...
  18. doi request reprint LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences
    Johanna Nilsson
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
    Biochim Biophys Acta 1844:398-405. 2014
    ..Glycogenin-2 was, however, unable to glucosylate inactive glycogenin-1, at least not an enzymatically inactivated Thr83Met glycogenin-1 mutant, recently identified in a patient with severe glycogen depletion. ..
  19. ncbi request reprint Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)
    Homa Tajsharghi
    Departments of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Eur J Hum Genet 13:617-22. 2005
    ..On the basis of these results, we suggest that MyHC genes should be regarded as candidate genes in cases of hereditary myopathies of unknown etiology...
  20. pmc Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
    Carola Hedberg
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
    Eur J Hum Genet 20:984-5. 2012
    ....
  21. ncbi request reprint Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, S 413 45 Goteborg, Sweden
    Arch Neurol 64:1334-8. 2007
    ..To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease...
  22. ncbi request reprint Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, 413 45 Goteborg, Sweden
    Neuromuscul Disord 15:299-302. 2005
    ..A few fibers showed mini-core changes. SEPN1 mutation analysis revealed that the patient was a compound heterozygote: a previously described insertion (713-714 insA), and a novel nonsense mutation (R439stop)...
  23. doi request reprint Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Arch Neurol 65:1083-90. 2008
    ..Mutations in other MyHC isoforms cause myopathy. It is unknown whether MYH3 mutations cause myopathy because muscle tissue has not been studied...
  24. pmc Myosinopathies: pathology and mechanisms
    Homa Tajsharghi
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden
    Acta Neuropathol 125:3-18. 2013
    ..In addition to protein aggregation and muscle fiber degeneration some of the myosin mutations cause functional impairment of the molecular motor adding to the pathogenesis of myosinopathies...
  25. doi request reprint Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation
    Carola Hedberg
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
    Neuromuscul Disord 22:244-51. 2012
    ..Other factors than skewed X-inactivation may cause allele inactivation and manifestation of severe myopathy in heterozygous carriers of pathogenic MTM1 mutations...
  26. ncbi request reprint Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Eur J Hum Genet 13:463-9. 2005
    ..We conclude that mtDNA point mutations do not appear to be directly or indirectly involved in the pathogenesis of mitochondrial disease in patients with different POLG1 mutations...
  27. doi request reprint Distal arthrogryposis: clinical and genetic findings
    Eva Kimber
    Department of Women s and Children s Health, Uppsala University Children s Hospital, Uppsala, Sweden
    Acta Paediatr 101:877-87. 2012
    ..Our aim is to describe clinical and molecular genetic findings in individuals with distal arthrogryposis and evaluate the genotype-phenotype correlation...
  28. ncbi request reprint Thick filament diseases
    Anders Oldfors
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Adv Exp Med Biol 642:78-91. 2008
    ..This may be expected in myosin isoforms expressed predominantly during muscle development. Clinical findings, muscle morphology and molecular genetics in hereditary myosin myopathies are summarized in this chapter...
  29. doi request reprint Neonatal muscular manifestations in mitochondrial disorders
    Mar Tulinius
    Department of Pediatrics, University of Gothenburg, The Queen Silvia Children s Hospital, S 416 85 Goteborg, Sweden
    Semin Fetal Neonatal Med 16:229-35. 2011
    ..The majority of patients with neonatal onset of mitochondrial disease have mutations in nuclear genes causing dysfunction of the mitochondrial respiratory chain, leading to defective oxidative phosphorylation...
  30. ncbi request reprint A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation
    Homa Tajsharghi
    Department of Pathology, Goteborg University, Sahlgrenska Hospital, Goteborg, Sweden
    Ann Neurol 58:442-8. 2005
    ..The C. elegans model may be useful to study suspected pathogenic mutations in MyHC genes associated with human muscle diseases...
  31. ncbi request reprint Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
    Homa Tajsharghi
    Department of Pathology, Neuromuscular Center, Sahlgrenska University Hospital, Goteborg, Sweden
    Ann Neurol 54:494-500. 2003
    ..Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle. We propose the term myosin storage myopathy for this disease...
  32. ncbi request reprint Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood
    Massoud Houshmand
    Department of Clinical Chemistry, Sahlgrenska University Hospital, Goteborg University, S 413 45 Goteborg, Sweden
    Neuromuscul Disord 14:195-201. 2004
    ..We conclude that occurrence of deleted mtDNA correlates with phenotypic expression and that the duplicated mtDNA might serve as a generator of deletions, but is not directly pathogenic...
  33. doi request reprint Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
    Johanna Nilsson
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
    Ann Neurol 74:914-9. 2013
    ..We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. Ann Neurol 2013;74:914-919. ..
  34. ncbi request reprint Diagnosis, pathogenesis and treatment of inclusion body myositis
    Anders Oldfors
    Göteborg Neuromuscular Center, Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Curr Opin Neurol 18:497-503. 2005
    ..We provide an update of progress gained from research into sporadic inclusion body myositis (s-IBM)...
  35. ncbi request reprint Anatomical study of the structures at the roof of the orbit with special reference to the check ligament of the superior fornix
    Hans Holmström
    Department of Plastic Surgery, Sahlgrenska University Hospital, Goteborg University, SE 413 45 Goteborg, Sweden
    Scand J Plast Reconstr Surg Hand Surg 36:157-9. 2002
    ..The technique for correction of congenital blepharoptosis by suspension of the check ligament of the superior fornix to the tarsus was mimicked and its function clarified...
  36. ncbi request reprint Mitochondrial encephalomyopathies
    Anders Oldfors
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 62:217-27. 2003
    ..The genotype-phenotype correlation is not yet entirely clear, but new animal models will enhance our ability to study the pathophysiology of OXPHOS disorders...
  37. pmc Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres
    Julien Ochala
    Department of Clinical Neurophysiology, Uppsala University Hospital, Entrance 85, 3rd Floor, SE 751 85 Uppsala, Sweden
    J Physiol 581:1283-92. 2007
    ....
  38. pmc Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation
    Julien Ochala
    Department of Neuroscience, Clinical Neurophysiology, University Hospital, Entrance 85, 3rd Floor, SE 751 85 Uppsala, Sweden
    J Physiol 586:2993-3004. 2008
    ....
  39. ncbi request reprint ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Brain 130:2045-54. 2007
    ..This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder...
  40. ncbi request reprint Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function
    Guillemette Fayet
    INSERM U523, Institut de Myologie, Hopital Pitie Salpetriere, Paris, France
    Neuromuscul Disord 12:484-93. 2002
    ..Their focal accumulation causes significant impairment of mitochondrial function in individual cells in spite of low overall levels of mitochondrial DNA mutations in muscle...
  41. ncbi request reprint Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
    Atle Melberg
    Acta Neuropathol 110:315-6. 2005
  42. ncbi request reprint A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance
    Johannes A Mayr
    University Children s Hospital, Paracelsus Private Medical University, Mullner Hauptstr 48, A 5020 Salzburg, Austria
    Neuromuscul Disord 16:874-7. 2006
    ..Our patient presented with a predominantly myopathic phenotype. The G14739A mutation is the third reported in the mitochondrial tRNA glutamic acid gene, and it occurred in a sporadic case...
  43. ncbi request reprint Mitochondrial (mt)DNA changes in tissue may not be reflected by depletion of mtDNA in peripheral blood mononuclear cells in HIV-infected patients
    Anne Maagaard
    Department of Infectious Diseases, Ullevaal University Hospital, Oslo, Norway
    Antivir Ther 11:601-8. 2006
    ....
  44. ncbi request reprint Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA
    Mikko Kärppä
    Department of Neurology, University of Oulu, Finland
    Brain 128:1861-9. 2005
    ..The clinical presentation of myopathy is highly variable in patients with 3243A>G...
  45. ncbi request reprint Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    Anne Sophie Nicot
    Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Department of Molecular Pathology, F 67400 Illkirch, France
    Nat Genet 39:1134-9. 2007
    ....