Homa Tajsharghi

Summary

Country: Sweden

Publications

  1. 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
  2. pmc Thick and thin filament gene mutations in striated muscle diseases
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, , Sweden Tel 46 31 3422343 E Mail
    Int J Mol Sci 9:1259-75. 2008
  3. 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
  4. doi request reprint Structural effects of the slow/b-cardiac myosin heavy chain R453C mutation in cardiac and skeletal muscle
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Scand Cardiovasc J 42:153-6. 2008
  5. 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
  6. 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
  7. 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
  8. pmc Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures
    Saba Abdul-Hussein
    Department of Pathology, University of Gothenburg, Gothenburg, Sweden
    PLoS ONE 8:e72396. 2013
  9. pmc Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells
    Saba Abdul-Hussein
    Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, SE, 413 45, Sweden
    BMC Musculoskelet Disord 13:262. 2012
  10. 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

Detail Information

Publications19

  1. 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...
  2. pmc Thick and thin filament gene mutations in striated muscle diseases
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, , Sweden Tel 46 31 3422343 E Mail
    Int J Mol Sci 9:1259-75. 2008
    ..The genetics and clinical manifestations of these disorders will be discussed...
  3. 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...
  4. doi request reprint Structural effects of the slow/b-cardiac myosin heavy chain R453C mutation in cardiac and skeletal muscle
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Scand Cardiovasc J 42:153-6. 2008
    ..In some families, HCM is caused by distinct mutations of the cardiac beta myosin heavy chain gene (MYH7)...
  5. 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...
  6. 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...
  7. 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...
  8. pmc Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures
    Saba Abdul-Hussein
    Department of Pathology, University of Gothenburg, Gothenburg, Sweden
    PLoS ONE 8:e72396. 2013
    ..Further, the phenotype is a combinatorial effect of the specific amino acid change and the temporal expression of the mutant protein...
  9. pmc Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells
    Saba Abdul-Hussein
    Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, SE, 413 45, Sweden
    BMC Musculoskelet Disord 13:262. 2012
    ..It is likely that elucidation of the expression patterns of muscle-specific sarcomeric proteins is important to understand muscle disorders originating from defects in contractile sarcomeric proteins...
  10. 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...
  11. 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
  12. 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...
  13. 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)...
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  18. pmc Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations
    Homa Tajsharghi
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
    Eur J Hum Genet 22:801-8. 2014
    ..We conclude that mild muscle weakness and ophthalmoplegia in combination with muscle biopsy demonstrating small or absent type 2A muscle fibers are the hallmark of recessive myopathy associated with MYH2 mutations. ..
  19. 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
    ....