The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
- Author
- BAHI-BUISSON, Nadia1 2 3 4 5 ; POIRIER, Karine1 2 ; LASCELLES, Karine11 ; SOUVILLE, Isabelle12 ; BELDJORD, Cherif12 ; CHELLY, Jamel1 2 ; FOURNIOL, Franck6 ; SAILLOUR, Yoann1 2 ; VALENCE, Stéphanie1 2 ; LEBRUN, Nicolas1 2 ; HULLY, Marie5 ; BIANCO, Catherine Fallet7 ; BODDAERT, Nathalie8 9 ; ELIE, Caroline10
[1] Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France
[2] Inserm, U1016, Paris, France
[3] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France
[4] INSERM UMR-1163, Embryology and genetics of congenital malformations, Paris, France
[5] Service de Neurologie pediatrique, Assistance Publique-Hôpitaux de Paris (AP-HP), hôpital Necker, Paris, France
[6] CRUK London Research Institute, London, United Kingdom
[7] Université de Montreal-CHU Sainte Justine, Montreal (QC), Canada
[8] Service de Radiologie Pediatrique, AP-HP, hôpital Necker, Paris, France
[9] Inserm, U797-INSERM-CEA, Service Hospitalier Frédéric Joliot, CEA, 4, place du General Leclerc, 91406, Orsay, France
[10] Biolnformatic Department-AP-HP, hôpital Necker-Enfants Malades, Paris, France
[11] Evelina Children's Hospital, St Thomas Hospital, London, United Kingdom
[12] Service de Biologie Moleculaire et Genetique, Pavilion Cassini AP-HP, Hôpital Cochin, Paris, France
LIS-Tubulinopathies Consortium - Source
Brain. 2014, Vol 137, pp 1676-1700, 25 p ; 6 ; ref : 1 p
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- lissencephaly microcephaly microlissencephaly pachygyria polymicrogyria tubulin
- Keyword (fr)
- Diagnostic Lissencéphalie Microcéphalie Pathologie du système nerveux Polymicrogyrie Tubuline Maladie congénitale Malformation Pathologie de l'encéphale Pathologie du système nerveux central
- Keyword (en)
- Diagnosis Lissencephaly Microcephaly Nervous system diseases Polymicrogyria Tubulin Congenital disease Malformation Cerebral disorder Central nervous system disease
- Keyword (es)
- Diagnóstico Lisencefalia Microcefalia Sistema nervioso patología Polimicrogiria Tubulina Enfermedad congénita Malformación Encéfalo patología Sistema nervosio central patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 28499673
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1093/brain/awu082 
https://dx.doi.org/10.1093/brain/awu082
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