Daniel Hantai

Summary

Country: France

Publications

  1. ncbi Congenital myasthenic syndromes
    Daniel Hantai
    Inserm U582 and Unité Clinique de Pathologie Neuromusculaire, Institut de Myologie, Hopital de la Salpetriere, Paris, France
    Curr Opin Neurol 17:539-51. 2004
  2. ncbi [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]
    Frédéric Chevessier
    INSERM U582 and IFR 14, Institut de Myologie, Hôpital de La Salpêtrière et Université Pierre et Marie Curie, Paris, France
    J Soc Biol 199:61-77. 2005
  3. ncbi Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation
    Eriko Yasaki
    INSERM U 582, Institut de Myologie, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Cedex 13, Paris, France
    Neuromuscul Disord 14:24-32. 2004
  4. ncbi Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro
    Brice Faraut
    INSERM U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47, Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Eur J Neurosci 19:2099-108. 2004
  5. ncbi A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome
    Pascale Richard
    AP HP, Groupe Hospitalier Pitie Salpetriere, Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B, Paris, France
    Neuromuscul Disord 17:409-14. 2007
  6. ncbi The origin of tubular aggregates in human myopathies
    Frédéric Chevessier
    INSERM U582, IFR 14, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France
    J Pathol 207:313-23. 2005
  7. pmc A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia
    Asma Ben Ammar
    INSERM, UMRS 975, UPMC, institut du cerveau et de la moelle épinière, Groupe Hospitalier Pitie Salpetriere, Paris, France
    PLoS ONE 8:e53826. 2013
  8. ncbi MUSK, a new target for mutations causing congenital myasthenic syndrome
    Frédéric Chevessier
    INSERM U582 and IFR Cur, Muscle, Vaisseaux, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France
    Hum Mol Genet 13:3229-40. 2004
  9. doi Congenital myasthenic syndromes
    Bruno Eymard
    Reference Center for Neuromuscular Diseases, Institute of Myology, Pitie Salpetriere Hospital, Paris, France
    Handb Clin Neurol 113:1469-80. 2013
  10. doi Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
    Karen Gaudon
    AP HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, GH Pitié Salpétrière, Paris, France
    J Med Genet 47:795-6. 2010

Collaborators

Detail Information

Publications14

  1. ncbi Congenital myasthenic syndromes
    Daniel Hantai
    Inserm U582 and Unité Clinique de Pathologie Neuromusculaire, Institut de Myologie, Hopital de la Salpetriere, Paris, France
    Curr Opin Neurol 17:539-51. 2004
    ..In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined...
  2. ncbi [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]
    Frédéric Chevessier
    INSERM U582 and IFR 14, Institut de Myologie, Hôpital de La Salpêtrière et Université Pierre et Marie Curie, Paris, France
    J Soc Biol 199:61-77. 2005
    ..These results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient...
  3. ncbi Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation
    Eriko Yasaki
    INSERM U 582, Institut de Myologie, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Cedex 13, Paris, France
    Neuromuscul Disord 14:24-32. 2004
    ....
  4. ncbi Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro
    Brice Faraut
    INSERM U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47, Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Eur J Neurosci 19:2099-108. 2004
    ....
  5. ncbi A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome
    Pascale Richard
    AP HP, Groupe Hospitalier Pitie Salpetriere, Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B, Paris, France
    Neuromuscul Disord 17:409-14. 2007
    ..This is the first synonymous mutation in CHRNE known to generate a cryptic splice site, and mRNA quantification strongly suggests that it is the disease-causing mutation...
  6. ncbi The origin of tubular aggregates in human myopathies
    Frédéric Chevessier
    INSERM U582, IFR 14, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France
    J Pathol 207:313-23. 2005
    ..Taken together, these results cast new light on the composition and significance of tubular aggregates...
  7. pmc A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia
    Asma Ben Ammar
    INSERM, UMRS 975, UPMC, institut du cerveau et de la moelle épinière, Groupe Hospitalier Pitie Salpetriere, Paris, France
    PLoS ONE 8:e53826. 2013
    ..In vitro experiments showed that the mutation alters agrin-dependent acetylcholine receptor aggregation, causes a constitutive activation of MuSK and a decrease in its agrin- and Dok-7-dependent phosphorylation...
  8. ncbi MUSK, a new target for mutations causing congenital myasthenic syndrome
    Frédéric Chevessier
    INSERM U582 and IFR Cur, Muscle, Vaisseaux, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France
    Hum Mol Genet 13:3229-40. 2004
    ..These results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient...
  9. doi Congenital myasthenic syndromes
    Bruno Eymard
    Reference Center for Neuromuscular Diseases, Institute of Myology, Pitie Salpetriere Hospital, Paris, France
    Handb Clin Neurol 113:1469-80. 2013
    ..Despite comprehensive characterization, the phenotypic expression of one given gene involved is variable, and the etiology of many CMS remains to be discovered...
  10. doi Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
    Karen Gaudon
    AP HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, GH Pitié Salpétrière, Paris, France
    J Med Genet 47:795-6. 2010
    ....
  11. ncbi Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency
    Keiko Ishigaki
    Institut de Myologie, INSERM U 523, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Neuromuscul Disord 13:236-44. 2003
    ..The close similarity of the mutations of these two patients with different phenotypes suggests that other factors may modify the severity of this disease...
  12. doi Congenital myasthenic syndromes: an update
    Daniel Hantai
    INSERM, U975, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Curr Opin Neurol 26:561-8. 2013
    ..This review will focus on the causative genes recently identified and on the therapy of CMSs...
  13. ncbi Thrombin downregulates muscle acetylcholine receptors via an IP3 signaling pathway by activating its G-protein-coupled protease-activated receptor-1
    Brice Faraut
    INSERM U 523, Institut de Myologie, Hopital de la Salpetriere, Paris, France
    J Cell Physiol 196:105-12. 2003
    ..Our results thus demonstrate that thrombin downregulates AChR expression by activating PAR-1 and that this effect is mediated via an IP3 signaling pathway...
  14. doi Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome
    Stéphanie Bauché
    INSERM, U975, Centre de Recherche de l Institut du Cerveau et de la Moelle épinière CRICM, Groupe Hospitalier Pitie Salpetriere, Paris, France Université Pierre et Marie Curie Paris 6, UMRS975, Paris, France CNRS, UMR7225, Paris, France École Pratique des Hautes Études, Paris, France
    Neuromuscul Disord 23:998-1009. 2013
    ..These data support the notion of peripheral nerve hyperexcitability in SJS, which would originate distally from synergistic actions of peripheral nerve and neuromuscular junction changes as a result of perlecan deficiency. ..