E Tournier Lasserve

Summary

Country: France

Publications

  1. pmc Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
    A Ducros
    Institut National de la Santé et de la Recherche Médicale INSERM U25, Faculte de Medecine Necker, 75730 Paris Cedex 15, France
    Am J Hum Genet 64:89-98. 1999
  2. ncbi request reprint 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
  3. ncbi request reprint [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
  4. ncbi request reprint Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Neurology 54:1874-5. 2000
  5. ncbi request reprint 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
  6. pmc 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
  7. ncbi request reprint 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
  8. ncbi request reprint 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
  9. ncbi request reprint 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
  10. ncbi request reprint 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

Collaborators

  • A Ducros
  • K Vahedi
  • A Joutel
  • Pierre Labauge
  • E Tournier-Lasserve
  • C Denier
  • F Bergametti
  • C Lescoat
  • S Laberge-le Couteulx
  • P Coubes
  • F Parker
  • B Echenne
  • M Tremoulet
  • J J Moreau
  • M Lonjon
  • S Boetto
  • J P Neau
  • G Jacquet
  • M Arnoult
  • M Clanet
  • R Ibrahim
  • B Irthum
  • J M Gasc
  • F Chapon
  • V Domenga
  • H H Jung
  • M Cecillon
  • J P Houtteville
  • E Marechal
  • J F Bach
  • M Baudrimont
  • E A Cabanis
  • J Weissenbach
  • H Chabriat
  • J Melki
  • J Maciazek
  • J L Mas
  • G M Lathrop

Detail Information

Publications14

  1. pmc Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
    A Ducros
    Institut National de la Santé et de la Recherche Médicale INSERM U25, Faculte de Medecine Necker, 75730 Paris Cedex 15, France
    Am J Hum Genet 64:89-98. 1999
    ..Finally, haplotyping with neighboring markers suggested that T666M arose through recurrent mutational events. These data could indicate that the PCA observed in 20% of HM families results from specific pathophysiologic mechanisms...
  2. ncbi request reprint 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...
  3. ncbi request reprint [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...
  4. ncbi request reprint Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Neurology 54:1874-5. 2000
  5. ncbi request reprint 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...
  6. pmc 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint 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
    ....
  9. ncbi request reprint 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...
  10. ncbi request reprint 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...
  11. ncbi request reprint 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 request reprint 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...
  13. ncbi request reprint 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...
  14. pmc Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
    F Bergametti
    INSERM E365, Faculté de Médecine Lariboisiere, Hopital Lariboisiere, Assistance Publique Hopitaux de Paris, 10 Avenue de Verdun, 75010 Paris, France
    Am J Hum Genet 76:42-51. 2005
    ..It is highly conserved in both vertebrates and invertebrates. Its implication in cerebral cavernous malformations strongly suggests that it is a new player in vascular morphogenesis and/or remodeling...