A Joutel

Summary

Country: France

Publications

  1. ncbi The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris 75730, France Laboratoire de Cytogénétique, Hopital Lariboisiere, Paris 75010, France
    J Clin Invest 105:597-605. 2000
  2. ncbi A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region
    A Joutel
    INSERM U25, Paris, France
    Genomics 38:192-8. 1996
  3. ncbi Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nature 383:707-10. 1996
  4. ncbi Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    A Joutel
    INSERM U25, Faculté Médecine Necker Enfants Malades, Paris, France
    Lancet 350:1511-5. 1997
  5. ncbi Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis
    A Joutel
    INSERM EPI 99 21, Faculté de Médecine Lariboisiere, 10 Avenue de Verdun, 75010, Paris, France
    Lancet 358:2049-51. 2001
  6. ncbi The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
    A Ducros
    INSERM E99 21, Faculté de Médecine Lariboisiere, Paris, France
    N Engl J Med 345:17-24. 2001
  7. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    E Tournier-Lasserve
    Laboratoire de Pathologie de l Immunité INSERM CJF 90 01, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nat Genet 3:256-9. 1993
  8. ncbi Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    A Joutel
    INSERM U25, , Paris, France
    Neurology 54:1874-5. 2000
  9. ncbi Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
    S Laberge-le Couteulx
    INSERM U25, Faculte de Medecine Necker, 156 rue de Vaugirard, 75730 Paris Cedex 15, France
    Nat Genet 23:189-93. 1999
  10. ncbi De novo mutation in the Notch3 gene causing CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, and Hopital Lariboisière, Paris, France
    Ann Neurol 47:388-91. 2000

Collaborators

Detail Information

Publications15

  1. ncbi The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris 75730, France Laboratoire de Cytogénétique, Hopital Lariboisiere, Paris 75010, France
    J Clin Invest 105:597-605. 2000
    ..These results strongly suggest that CADASIL mutations specifically impair the clearance of the Notch3 ectodomain, but not the cytosolic domain, from the cell surface...
  2. ncbi A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region
    A Joutel
    INSERM U25, Paris, France
    Genomics 38:192-8. 1996
    ....
  3. ncbi Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nature 383:707-10. 1996
    ..We have identified mutations in CADASIL patients that cause serious disruption of this gene, indicating that Notch3 could be the defective protein in CADASIL patients...
  4. ncbi Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    A Joutel
    INSERM U25, Faculté Médecine Necker Enfants Malades, Paris, France
    Lancet 350:1511-5. 1997
    ..To set up a diagnostic test and to delineate the Notch3 domains involved in CADASIL., we undertook mutations analysis in this gene in a group of CADASIL patients...
  5. ncbi Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis
    A Joutel
    INSERM EPI 99 21, Faculté de Médecine Lariboisiere, 10 Avenue de Verdun, 75010, Paris, France
    Lancet 358:2049-51. 2001
    ..Our immunostaining technique is highly sensitive (96%) and specific (100%) for diagnosis of CADASIL...
  6. ncbi The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
    A Ducros
    INSERM E99 21, Faculté de Médecine Lariboisiere, Paris, France
    N Engl J Med 345:17-24. 2001
    ..We studied the various clinical manifestations associated with mutations in CACNA1A in families with hemiplegic migraine with and without cerebellar signs...
  7. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    E Tournier-Lasserve
    Laboratoire de Pathologie de l Immunité INSERM CJF 90 01, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nat Genet 3:256-9. 1993
    ..Multilocus analysis with the location scores method established the best estimate for the location of the affected gene within a 14 centimorgan interval bracketed by D19S221 and D19S222 loci...
  8. ncbi Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    A Joutel
    INSERM U25, , Paris, France
    Neurology 54:1874-5. 2000
  9. ncbi Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
    S Laberge-le Couteulx
    INSERM U25, Faculte de Medecine Necker, 156 rue de Vaugirard, 75730 Paris Cedex 15, France
    Nat Genet 23:189-93. 1999
    ..9), a member of the RAS family of GTPases, is mutated in CCM1 families. Our data suggest the involvement of the RAP1A signal transduction pathway in vasculogenesis or angiogenesis...
  10. ncbi De novo mutation in the Notch3 gene causing CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, and Hopital Lariboisière, Paris, France
    Ann Neurol 47:388-91. 2000
    ..Therefore, our finding suggests that CADASIL may be more frequent than anticipated...
  11. ncbi Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity
    A Ducros
    INSERM U25, Faculte de Medecine Necker, Hopital Lariboisiere, Paris, France
    Ann Neurol 42:885-90. 1997
    ..Chromosome 1-linked families differ from the ones linked to chromosome 19, because penetrance in those families is much lower, and in some of their members, epileptic seizures occur during severe migraine attacks...
  12. ncbi Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy
    K Vahedi
    Service de Neurologie, Assistance Publique Hopitaux de Paris, Hopital Lariboisiere, Paris, France
    Neurology 60:57-63. 2003
    ..Hereditary retinal arteriolar tortuosity is a distinct, autosomal dominant condition characterized by retinal arteriolar tortuosity and recurrent retinal hemorrhages. This condition is known to affect only retinal vessels...
  13. ncbi A gene for familial hemiplegic migraine maps to chromosome 19
    A Joutel
    Laboratoire de Pathologie de l Immunité, Faculte de Medecine Necker, Paris, France
    Nat Genet 5:40-5. 1993
    ..A maximum lod score > 8 was found with two markers that are also strongly linked to CADASIL. Multilocus linkage analysis suggested that the loci responsible for the two diseases reside within an interval of about 30 cM on chromosome 19...
  14. ncbi [Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain]
    A Joutel
    EMI 99 21, Faculté de Médecine Lariboisiere, 10, avenue de Verdun, 75010 Paris
    J Soc Biol 196:109-15. 2002
    ..Furthermore, they open new perspectives in the field of small-artery diseases of the brain and should help to further dissect their genetic etiologies and understand their pathogenic mechanisms...
  15. ncbi Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult
    C Denier
    INSERM EMI 99 21, Faculté de Médecine Lariboisiere, 10, avenue de Verdun, 75010 Paris, France
    Mech Dev 117:363-7. 2002
    ..A similar pattern of expression persisted in mouse and man adult nervous system and epithelia. Unexpectedly, in vascular tissues, expression of Krit1 was detected only in large blood vessels of the embryo...