Novel mutations and repeated findings of mutations in familial Alzheimer disease
- Author
- FINCKH, Ulrich1 ; KUSCHEL, Christian1 ; GAL, Andreas1 ; ANAGNOSTOULI, Maria2 ; PATSOURIS, Efstratios3 ; PANTES, George V2 ; GATZONIS, Stylianos2 ; KAPAKI, Elisabeth2 ; DAVAKI, Panagiota2 ; LAMSZUS, Katrin4 ; STAVROU, Dimitrios5
[1] Institute of Human Genetics, University Hospital Hamburg-Eppendorf, University of Hamburg, Butenfeld 42, 22529 Hamburg, Germany
[2] Department of Neurology, Medical School of Athens National University, Athens, Greece
[3] Department of Pathology, Medical School of Athens National University, Athens, Greece
[4] Department of Neurosurgery, University Hospital Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany
[5] Institute of Neuropathology, University Hospital Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany - Source
Neurogenetics (Oxford. Print). 2005, Vol 6, Num 2, pp 85-89, 5 p ; ref : 32 ref
- Publisher
- Springer, Berlin
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- APP FAD Familial Alzheimer disease Founder Mutation PSEN1 PSEN2 Recurrent mutation
- Keyword (fr)
- Démence Alzheimer Effet fondateur Génétique Maladie familiale Mutation Récidivant Récidive Système nerveux pathologie Séquence répétée Encéphale pathologie Maladie dégénérative Système nerveux central pathologie
- Keyword (en)
- Alzheimer disease Founder effect Genetics Familial disease Mutation Recurrent Relapse Nervous system diseases Repeated sequence Cerebral disorder Degenerative disease Central nervous system disease
- Keyword (es)
- Demencia Alzheimer Efecto fundador Genética Enfermedad familiar Mutación Recidivante Recaida Sistema nervioso patología Secuencia repetida Encéfalo patología Enfermedad degenerativa Sistema nervosio central patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Medical genetics Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16810540
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/s10048-005-0211-x 
https://dx.doi.org/10.1007/s10048-005-0211-x
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