N Darin

Summary

Affiliation: Sahlgrenska University Hospital
Country: Sweden

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint 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
  3. doi request reprint 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
  4. doi request reprint Ophthalmological findings in children and young adults with genetically verified mitochondrial disease
    M A Grönlund
    Department of Paediatric Ophthalmology, The Queen Silvia Children s Hospital, Sahlgrenska University Hospital Ostra, SE 416 85 Gothenburg, Sweden
    Br J Ophthalmol 94:121-7. 2010
  5. ncbi request reprint New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Neurology 68:2041-2. 2007
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. ncbi request reprint 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
  9. ncbi request reprint 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 request reprint New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations
    M Ohlsson
    Department of Pathology, Sahlgrenska University Hospital, 41345 Goteborg, Sweden
    Neurology 71:1896-901. 2008

Collaborators

Detail Information

Publications15

  1. ncbi request reprint 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...
  2. ncbi request reprint 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
    ....
  3. doi request reprint 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...
  4. doi request reprint Ophthalmological findings in children and young adults with genetically verified mitochondrial disease
    M A Grönlund
    Department of Paediatric Ophthalmology, The Queen Silvia Children s Hospital, Sahlgrenska University Hospital Ostra, SE 416 85 Gothenburg, Sweden
    Br J Ophthalmol 94:121-7. 2010
    ..To describe ophthalmological phenotypes in patients with mitochondrial disease and known genotypes...
  5. ncbi request reprint New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Neurology 68:2041-2. 2007
  6. ncbi request reprint 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint 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...
  9. ncbi request reprint 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 request reprint New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations
    M Ohlsson
    Department of Pathology, Sahlgrenska University Hospital, 41345 Goteborg, Sweden
    Neurology 71:1896-901. 2008
    ..We describe the muscle biopsy findings in three patients with cap disease and novel heterozygous mutations in TPM2...
  11. ncbi request reprint Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Ann Neurol 44:242-8. 1998
    ..These findings suggests that this new disease should be classified as a variant of hereditary inclusion body myopathy...
  12. ncbi request reprint 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
    ....
  13. ncbi request reprint Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1)
    M Ohlsson
    Department of Pathology, Göteborg Neuromuscular Center, Sahlgrenska University Hospital, SE 413 45 Goteborg, Sweden
    Neuromuscul Disord 14:471-5. 2004
    ..The described two mutations add to the previously reported mutations in ACTA1 associated with nemaline myopathy...
  14. ncbi request reprint Myopathies associated with myosin heavy chain mutations
    A Oldfors
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Acta Myol 23:90-6. 2004
    ..These patients showed slowly progressive muscle weakness but no overt cardiomyopathy. These two muscle diseases, which are caused by mutations in MyHC, form the basis of a novel entity: "Myosin myopathies"...
  15. ncbi request reprint The effects of endurance training in persons with a hereditary myosin myopathy
    K S Sunnerhagen
    Department of Clinical Neuroscience Rehabilitation Medicine, Sahlgrenska Academy, Goteborg University, Goteborg, Sweden
    Acta Neurol Scand 110:80-6. 2004
    ..To evaluate muscle performance and its consequences in eight individuals with a hereditary myopathy and the effects of an 8-week endurance training program...