C Ioos

Summary

Country: France

Publications

  1. ncbi request reprint Hot water epilepsy: a benign and unrecognized form
    C Ioos
    Department of Pediatric Neurology, Hopital Raymond Poincare, Garches, France
    J Child Neurol 15:125-8. 2000
  2. ncbi request reprint Sleep disorders caused by brainstem tumor: case report
    C Ioos
    Department of Clinical Neurophysiology, Hĵpital Raymond Poincaré, Garches, France
    J Child Neurol 16:767-70. 2001
  3. pmc Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes
    P Richard
    Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B and IFR 14, Hopital de la Salpetriere, Paris, France
    J Med Genet 40:e81. 2003
  4. ncbi request reprint [Congenital myasthenic syndromes due to mutations in the rapsyn gene]
    B Eymard
    INSERM U582 et Institut de Myologie, Hopital de la Salpetriere, Paris
    Rev Neurol (Paris) 160:S78-84. 2004
  5. ncbi request reprint Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms
    C Ioos
    Service de Neuropediatrie, Hopital Raymond Poincare, Garches, France
    Neuropediatrics 35:246-9. 2004
  6. ncbi request reprint Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK
    F Chevessier
    INSERM U582, Institut de Myologie, Hopital de la Salpetriere, Paris, France
    Acta Myol 24:55-9. 2005

Collaborators

  • B Eymard
  • P Richard
  • S Bauche
  • D Hantai
  • E Fournier
  • J P Leroy
  • J Koenig
  • C Prioleau
  • K Gaudon
  • F Chevessier
  • M Fardeau
  • M Mayer
  • E Yasaki
  • A Barois
  • R Herbst
  • J P Azulay
  • L Schaeffer
  • E Goillot
  • S Attarian
  • J Pouget
  • A Ravel-Chapuis
  • C Legay
  • B Faraut
  • B Estournet
  • B Hainque
  • M C Routon
  • F Andreux
  • M Mokhtari

Detail Information

Publications6

  1. ncbi request reprint Hot water epilepsy: a benign and unrecognized form
    C Ioos
    Department of Pediatric Neurology, Hopital Raymond Poincare, Garches, France
    J Child Neurol 15:125-8. 2000
    ..Seizure course and psychomotor development are favorable. Hot water epilepsy is a benign form of epilepsy. Its incidence could be underestimated because of confusion with febrile convulsions, vagal fits, or aquagenic urticaria...
  2. ncbi request reprint Sleep disorders caused by brainstem tumor: case report
    C Ioos
    Department of Clinical Neurophysiology, Hĵpital Raymond Poincaré, Garches, France
    J Child Neurol 16:767-70. 2001
    ..Several central apneas were observed. The apneas were more frequent during REM sleep in the first recording and were associated with desaturation and microarousals...
  3. pmc Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes
    P Richard
    Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B and IFR 14, Hopital de la Salpetriere, Paris, France
    J Med Genet 40:e81. 2003
  4. ncbi request reprint [Congenital myasthenic syndromes due to mutations in the rapsyn gene]
    B Eymard
    INSERM U582 et Institut de Myologie, Hopital de la Salpetriere, Paris
    Rev Neurol (Paris) 160:S78-84. 2004
    ..A Engel and colleagues report that the seven cases of benign CMS with facial malformation, previously described in the Jewish population of Iraq and Iran, were caused by mutation in the promoter region of the rapsyn gene...
  5. ncbi request reprint Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms
    C Ioos
    Service de Neuropediatrie, Hopital Raymond Poincare, Garches, France
    Neuropediatrics 35:246-9. 2004
    ..This paper underlines the importance of anticholinesterase medication in patients with congenital myasthenic syndrome due to rapsyn deficiency...
  6. ncbi request reprint Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK
    F Chevessier
    INSERM U582, Institut de Myologie, Hopital de la Salpetriere, Paris, France
    Acta Myol 24:55-9. 2005
    ..There are hundreds of molecules known to be present at the NMJ and mutations in the genes coding for these synaptic molecules are likely to be responsible for a neuromuscular block...