A mutation at codon 279 (N279k) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy
- Autor
- DELISLE, M.-B1 ; MURRELL, J. R2 ; RICHARDSON, R2 ; TROFATTER, J. A3 ; RASCOL, O4 ; SOULAGES, X5 ; MOHR, M6 ; CALVAS, P7 ; GHETTI, B2
[1] Neuropathology Laboratory, INSERM U466, University Hospital, University Paul Sabatier, Toulouse, France
[2] Department of Pathology and Laboratory Medicine, Division of Neuropathology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, IN 46202, United States
[3] Department of Psychiatry, Indiana University School of Medicine, Indianapolis, Indiana, United States
[4] Department of Pharmacology and Neurology, Clinical Investigation Center, University Hospital, Toulouse, France
[5] Department of Medicine, General Hospital, Rodez, France
[6] Institute of Pathology, Faculty of Medicine, Strasbourg, France
[7] Laboratory of Molecular Immunogenetic, University Hospital, Toulouse, France - Fuente
Acta neuropathologica. 1999, Vol 98, Num 1, pp 62-77 ; ref : 51 ref
- Editor
- Springer, Berlin
- País de la publicación
- Germany
- Tipo de documento
- Article
- Idioma
- English
- Palabra clave (fr)
- Démence Exploration Gène Homme Immunohistochimie Lobe frontal Lobe temporal Mutation Ophtalmoplégie supranucléaire Progressif Protéine tau Anatomopathologie Encéphale pathologie Maladie dégénérative Oculomotricité syndrome Oeil pathologie Système nerveux central pathologie Système nerveux pathologie Tronc cérébral syndrome
- Palabra clave (in)
- Dementia Exploration Gene Human Immunohistochemistry Frontal lobe Temporal lobe Mutation Supranuclear ophthalmoplegia Progressive Tau protein Pathology Cerebral disorder Degenerative disease Oculomotor syndrome Eye disease Central nervous system disease Nervous system diseases Brain stem syndrome
- Palabra clave (es)
- Demencia Exploración Gen Hombre Inmunohistoquímica Lóbulo frontal Lóbulo temporal Mutación Oftalmoplejía supranuclear Progresivo Proteína tau Anatomía patológica Encéfalo patología Enfermedad degenerativa Oculomotricidad síndrome Ojo patología Sistema nervosio central patología Sistema nervioso patología Tallo encefalico sindrome
- Clasificación
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Disciplina
- Neurology
- Procedencia
- Inist-CNRS
- Base de datos
- PASCAL
- Identificador INIST
- 1833967
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
10.1007/s004010051052 
https://dx.doi.org/10.1007/s004010051052
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