A R Moslemi

Summary

Affiliation: Sahlgrenska University Hospital
Country: Sweden

Publications

  1. ncbi SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neurology 61:991-3. 2003
  2. ncbi A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, 41345 Goteborg, Sweden
    Neuromuscul Disord 14:46-50. 2004
  3. ncbi Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuromuscul Disord 16:504-6. 2006
  4. ncbi Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene
    M Tulinius
    Department of Pediatrics, The Queen Silvia Children s Hospital, Goteborg, Sweden
    Neuropediatrics 34:87-91. 2003
  5. doi Progressive encephalopathy and complex I deficiency associated with mutations in MTND1
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuropediatrics 39:24-8. 2008
  6. ncbi Two new mutations in the MTATP6 gene associated with Leigh syndrome
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuropediatrics 36:314-8. 2005
  7. ncbi Inclusion body myositis: clonal expansions of muscle-infiltrating T cells persist over time
    K Müntzing
    Department of Pathology, Sahlgrenska University Hospital, SE 413 45 Goteborg, Sweden
    Scand J Immunol 58:195-200. 2003
  8. ncbi Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuropediatrics 34:311-7. 2003
  9. ncbi Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Eur J Paediatr Neurol 11:353-7. 2007
  10. ncbi Mitochondrial abnormalities in inclusion-body myositis
    A Oldfors
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neurology 66:S49-55. 2006

Detail Information

Publications13

  1. ncbi SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neurology 61:991-3. 2003
    ..The authors have identified four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of LS with COX deficiency...
  2. ncbi A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, 41345 Goteborg, Sweden
    Neuromuscul Disord 14:46-50. 2004
    ..This mutation adds to the previously described four pathogenic mutations in the tRNA(Phe) gene...
  3. ncbi Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuromuscul Disord 16:504-6. 2006
    ..Analysis of single muscle fibers revealed a significantly higher level of mutated mtDNA in COX-negative fibers. Our study indicates that the 583G>A mutation is pathogenic and expands the clinical spectrum of this mutation...
  4. ncbi Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene
    M Tulinius
    Department of Pediatrics, The Queen Silvia Children s Hospital, Goteborg, Sweden
    Neuropediatrics 34:87-91. 2003
    ....
  5. doi Progressive encephalopathy and complex I deficiency associated with mutations in MTND1
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuropediatrics 39:24-8. 2008
    ..The findings in this patient as well as in patient 2 demonstrate new clinical expressions of mutations in MTND1. The findings in patient 2 also illustrates that MTND mutations may be pathogenic even at a low percentage...
  6. ncbi Two new mutations in the MTATP6 gene associated with Leigh syndrome
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuropediatrics 36:314-8. 2005
    ..This mutation was absent in the patient's parents and sister suggesting that the mutation was de novo. Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS...
  7. ncbi Inclusion body myositis: clonal expansions of muscle-infiltrating T cells persist over time
    K Müntzing
    Department of Pathology, Sahlgrenska University Hospital, SE 413 45 Goteborg, Sweden
    Scand J Immunol 58:195-200. 2003
    ..Identical T-cell clones predominate in different muscles, and these clones persist for many years. These results indicate an important, continuous, antigen-driven inflammatory reaction in IBM...
  8. ncbi Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuropediatrics 34:311-7. 2003
    ....
  9. ncbi Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Eur J Paediatr Neurol 11:353-7. 2007
    ..35 mg/kg/day. Our results provide evidence for an inflammatory involvement in the pathological expression of LGMD2I and open up the possibility that this disorder could be treatable with corticosteroids...
  10. ncbi Mitochondrial abnormalities in inclusion-body myositis
    A Oldfors
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neurology 66:S49-55. 2006
    ..Treatment that has positive effects in mitochondrial myopathies may be tried also in s-IBM...
  11. ncbi The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities
    N Darin
    Department of Pediatrics, The Queen Silvia Children s Hospital, Goteborg, Sweden
    Ann Neurol 49:377-83. 2001
    ..We conclude that mitochondrial encephalomyopathies are relatively common neurometabolic disorders in childhood...
  12. ncbi MELAS syndrome in a patient with a point mutation in MTTS1
    C Lindberg
    Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Goteborg, Sweden
    Acta Neurol Scand 117:128-32. 2008
    ..At the age of 44 years, she suffered a cerebral sinus thrombosis which was warfarin treated. One month later, she developed an episode of severe acidosis associated with encephalopathy and myelopathy...
  13. ncbi A Western blot and molecular genetic investigation of the estrogen receptor beta in giant cell arteritis
    K Larsson
    Department of Rheumatology, Sahlgrenska University Hospital, Goteborg, Sweden
    Clin Exp Rheumatol 24:S17-9. 2006
    ..The object of the present study was to investigate the size of the estrogen receptor beta (ERBeta), and the size and nucleotide sequence of the ERBeta gene in temporal arteries in GCA...