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The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson, Nadia; Poirier, Karine; Fourniol, Franck; Saillour, Yoann; Valence, Stéphanie; Lebrun, Nicolas; Hully, Marie; Bianco, Catherine Fallet; Boddaert, Nathalie; Elie, Caroline; Lascelles, Karine; Souville, Isabelle; Beldjord, Cherif; Chelly, Jamel.
Affiliation
  • Bahi-Buisson N; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France3 Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France4 INSERM UMR-1163, Embryology and genetics of congenital malformations, Paris, France5 Service de Neurologie pé
  • Poirier K; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France.
  • Fourniol F; 6 CRUK London Research Institute, London, UK.
  • Saillour Y; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France.
  • Valence S; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France.
  • Lebrun N; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France.
  • Hully M; 5 Service de Neurologie pédiatrique, Assistance Publique-Hôpitaux de Paris (AP-HP), hôpital Necker, Paris, France.
  • Bianco CF; 7 Université de Montreal-CHU Sainte Justine, Montreal (QC), Canada.
  • Boddaert N; 8 Service de Radiologie Pédiatrique, AP-HP, hôpital Necker, Paris, France9 Inserm, U797-INSERM-CEA, Service Hospitalier Frédéric Joliot, CEA, 4, place du General Leclerc, 91406, Orsay, France.
  • Elie C; 10 BioInformatic Department-AP-HP, hôpital Necker-Enfants Malades, Paris, France.
  • Lascelles K; 11 Evelina Children's Hospital, St Thomas Hospital, London, UK.
  • Souville I; 12 Service de Biologie Moleculaire et Genetique, Pavillon Cassini AP-HP, Hôpital Cochin, Paris, France.
  • Beldjord C; 12 Service de Biologie Moleculaire et Genetique, Pavillon Cassini AP-HP, Hôpital Cochin, Paris, France.
  • Chelly J; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France.
Brain ; 137(Pt 6): 1676-700, 2014 Jun.
Article in En | MEDLINE | ID: mdl-24860126
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Malformations of Cortical Development / Lissencephaly / Agenesis of Corpus Callosum / Microcephaly / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2014 Type: Article
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Malformations of Cortical Development / Lissencephaly / Agenesis of Corpus Callosum / Microcephaly / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2014 Type: Article