Ibrahim Mahjneh

Summary

Country: Finland

Publications

  1. doi request reprint DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy
    Ibrahim Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Neuromuscul Disord 23:36-42. 2013
  2. doi request reprint Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study
    Ibrahim Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Neuromuscul Disord 22:S130-6. 2012
  3. ncbi request reprint Episodic muscle pain, stiffness, and weakness associated with tubular aggregates and myoedema
    I Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Eur J Neurol 14:569-71. 2007
  4. ncbi request reprint Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study
    Ibrahim Mahjneh
    Dept of Neurology, Pietasaari Hospital PL 23, 68601 Pietasaari, Finland
    J Neurol 253:301-6. 2006
  5. doi request reprint A new distal myopathy with mutation in anoctamin 5
    Ibrahim Mahjneh
    Department of Neurology, Oulu University Hospital, Oulu, Finland Department of Neurology, Pietarsaari Central Hospital, Pietarsaari, Finland
    Neuromuscul Disord 20:791-5. 2010
  6. ncbi request reprint [Bent spine straightens up--a case of camptocormia]
    Ibrahim Mahjneh
    OYS n neurologian klinikka ja Malmin terveydenhuoltoalue, Neurologian klinikka, PL 111, 68601 Pietarsaari
    Duodecim 125:1889-93. 2009
  7. ncbi request reprint Axial myopathy--an unrecognised entity
    Ibrahim Mahjneh
    Department of Neurology, University of Oulu, PL 5000, 90014 Oulu, Finland
    J Neurol 249:730-4. 2002
  8. ncbi request reprint Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G
    Mikko Kärppä
    Department of Neurology and Biocenter, University of Oulu, 5000, 90014, Oulu, Finland
    J Neurol 251:556-63. 2004
  9. ncbi request reprint A distinct phenotype of distal myopathy in a large Finnish family
    I Mahjneh
    Department of Neurology, Oulu University Hospital, Finland
    Neurology 61:87-92. 2003
  10. ncbi request reprint Pure quadriceps myopathy in two sisters
    I Mahjneh
    Department of Neurology, Pietarsaari Hospital, Pietarsaari, Finland
    Eur J Neurol 10:453-6. 2003

Collaborators

  • B Udd
  • Kari Majamaa
  • Francoise Fougerousse
  • Mikko Kärppä
  • L V Anderson
  • Ari Karttunen
  • Uolevi Tolonen
  • J Walsh
  • K M Bushby
  • Z Argov
  • C Young
  • M A Johnson
  • S Britton
  • R Bashir
  • J S Beckmann
  • J A Moss
  • K Davison
  • S Keers
  • M J Cullen

Detail Information

Publications13

  1. doi request reprint DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy
    Ibrahim Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Neuromuscul Disord 23:36-42. 2013
    ..This family needs to be reclassified as congenital myasthenic syndrome rather than congenital muscular dystrophy...
  2. doi request reprint Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study
    Ibrahim Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Neuromuscul Disord 22:S130-6. 2012
    ....
  3. ncbi request reprint Episodic muscle pain, stiffness, and weakness associated with tubular aggregates and myoedema
    I Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Eur J Neurol 14:569-71. 2007
    ..Muscle biopsy revealed fiber size variation and tubular aggregates (TA). Muscle magnetic resonance imaging showed areas of edema. Other muscle pathologies known to be associated with TAs or myoedema were ruled out...
  4. ncbi request reprint Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study
    Ibrahim Mahjneh
    Dept of Neurology, Pietasaari Hospital PL 23, 68601 Pietasaari, Finland
    J Neurol 253:301-6. 2006
    ..Patients with a subtype of MSS with myoglobinuria and neuropathy have been linked to chromosome 18qter, and recently a locus for classical MSS has been localized on chromosome 5q31...
  5. doi request reprint A new distal myopathy with mutation in anoctamin 5
    Ibrahim Mahjneh
    Department of Neurology, Oulu University Hospital, Oulu, Finland Department of Neurology, Pietarsaari Central Hospital, Pietarsaari, Finland
    Neuromuscul Disord 20:791-5. 2010
    ..We conclude that the disease seen in our cases is a new separate clinical, genetic and histopathologic entity to include within the classification of autosomal recessive distal muscular dystrophies...
  6. ncbi request reprint [Bent spine straightens up--a case of camptocormia]
    Ibrahim Mahjneh
    OYS n neurologian klinikka ja Malmin terveydenhuoltoalue, Neurologian klinikka, PL 111, 68601 Pietarsaari
    Duodecim 125:1889-93. 2009
    ..Administration of botulinum toxin into rectus abdominus muscles was started. The response was good: the patient was able to walk in a fairly erect posture assisted by a rolling walker...
  7. ncbi request reprint Axial myopathy--an unrecognised entity
    Ibrahim Mahjneh
    Department of Neurology, University of Oulu, PL 5000, 90014 Oulu, Finland
    J Neurol 249:730-4. 2002
    ....
  8. ncbi request reprint Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G
    Mikko Kärppä
    Department of Neurology and Biocenter, University of Oulu, 5000, 90014, Oulu, Finland
    J Neurol 251:556-63. 2004
    ..These data show that CT reveals frequent abnormal findings in the muscle of patients with the 3243A>G mtDNA mutation. Muscle CT is a useful adjunct to clinical evaluation in these patients...
  9. ncbi request reprint A distinct phenotype of distal myopathy in a large Finnish family
    I Mahjneh
    Department of Neurology, Oulu University Hospital, Finland
    Neurology 61:87-92. 2003
    ..The authors carried out clinical, histopathologic, immunocytochemical, electrophysiologic, and imaging investigations and molecular genetic analysis in seven patients with distal myopathy belonging to a Finnish family...
  10. ncbi request reprint Pure quadriceps myopathy in two sisters
    I Mahjneh
    Department of Neurology, Pietarsaari Hospital, Pietarsaari, Finland
    Eur J Neurol 10:453-6. 2003
    ..Therefore, all muscle pathologies known to have quadriceps involvement as a leading feature have been ruled out. We conclude that our patients have pure QM with probable autosomal recessive inheritance...
  11. ncbi request reprint Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy
    I Mahjneh
    Department of Neurology, University of Oulu, Oulu, Finland
    Acta Neurol Scand 110:87-93. 2004
    ....
  12. ncbi request reprint Familial carpal tunnel syndrome: a report of a Finnish family
    I Mahjneh
    Department of Neurology, University of Oulu, Finland
    Acta Neurol Scand 104:377-9. 2001
    ..Our study supports the theory that FCTS exists as a separate autonomic entity, therefore it is important in front of a sporadic case to investigate the family occurrence of CTS...
  13. ncbi request reprint Dysferlin is a plasma membrane protein and is expressed early in human development
    L V Anderson
    Neurobiology Department, University Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Hum Mol Genet 8:855-61. 1999
    ..Lack of dysferlin at this critical time may contribute to the pattern of muscle involvement that develops later, with the onset of a muscular dystrophy primarily affecting proximal or distal muscles...