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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Author
POTTIER, C1 2 ; HANNEQUIN, D1 2 ; THOMAS-ANTERION, C6 ; MICHON, A2 7 ; CROISILE, B8 ; ETCHARRY-BOUYX, F9 ; BERR, C10 ; DARTIGUES, J.-F11 ; AMOUYEL, P12 ; DAUCHEL, H13 ; BOUTOLEAU-BRETONNIERE, C14 ; THAUVIN, C15 ; COUTANT, S1 2 ; FREBOURG, T1 ; LAMBERT, J.-C12 ; CAMPION, D1 16 2 ; ROVELET-LECRUX, A1 2 ; WALLON, D1 2 ; ROUSSEAU, S1 2 ; LEGALLIC, S1 2 ; PAQUET, C3 ; BOMBOIS, S2 4 ; PARIENTE, J5
[1] Department of Molecular Genetics, Inserm U614, Institute for Biomedical Research and Innovation, University of Rouen, Rouen, France
[2] CNR-MAJ, Rouen University Hospital, Lille University Hospital and Paris Salpêtrière University Hospital, France
[3] CMRR Nord, Inserm U839, Lariboisière University Hospital, Paris, France
[4] EA1046, Lille Nord University Hospital, Lille, France
[5] Department of Neurology, CMRR and Inserm U825, Purpan University Hospital, Toulouse, France
[6] Department of Neurology, CMRR, University Hospital Nord, Saint Etienne, France
[7] CRCICM, IM2A, UMR-S975 AP-HP, University Hospital Pitié-Salpêtrière, Paris, France
[8] Department of Neuropsychology, CMRR, University Hospital, Groupe Hospitalier Est, Bron, France
[9] Department of Neurology, Angers University Hospital, Angers, France
[10] INSERM U888, Hôpital La Colombière, Montpellier, France
[11] INSERM U897, Victor Segalen University, Bordeaux, France
[12] INSERM U744, Pasteur Institute of Lille, Lille, France
[13] LITIS, EA 4108, University of Rouen, Rouen, France
[14] Department of Neurology, CMRR, Nantes University Hospital, Nantes, France
[15] Department of Genetics, Dijon University Hospital, Dijon, France
[16] Le Rouvray Hospital, Sotteville les Rouen, France
PHRC GMAJ Collaborators
Source

Molecular psychiatry. 2012, Vol 17, Num 9, pp 875-879, 5 p ; ref : 10 ref

ISSN
1359-4184
Scientific domain
Biochemistry, molecular biology, biophysics; Cognition; Psychology, psychopathology, psychiatry
Publisher
Nature Publishing Group, Basingstoke
Publication country
United Kingdom
Document type
Article
Language
English
Author keyword
Alzheimer SORL1 exome mutation
Keyword (fr)
Age apparition Démence d'Alzheimer Haute fréquence Mutation Précoce Maladie dégénérative Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
Keyword (en)
Age of onset Alzheimer disease High frequency Mutation Early Degenerative disease Cerebral disorder Central nervous system disease Nervous system diseases
Keyword (es)
Edad aparición Demencia Alzheimer Alta frecuencia Mutación Precoz Enfermedad degenerativa Encéfalo patología Sistema nervosio central patología Sistema nervioso 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 / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C13 Organic mental disorders. Neuropsychology

Francis
770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D03 Adult and adolescent clinical studies / 770-D03M Organic mental disorders. Neuropsychology

Discipline
Neurology Psychopathology. Psychiatry. Clinical psychology
Origin
Inist-CNRS
Database
FRANCIS ; PASCAL
INIST identifier
26304495

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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