Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene

Neurology

Volumn 69, Issue 1, 2007, Pages 79-83

  Gourfinkel An, I ^a   Duyckaerts, C ^a   Camuzat, A ^a   Meyrignac, C ^b   Sonderegger, P ^c   Baulac, M ^a   Brice, A ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROSERPIN; SERINE PROTEINASE INHIBITOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CAUDATE NUCLEUS; CELL INCLUSION; CEREBELLUM; CEREBROSPINAL FLUID ANALYSIS; DEGENERATIVE DISEASE; ELECTROENCEPHALOGRAM; ELECTRON MICROSCOPY; EYE MOVEMENT; FAMILIAL DISEASE; FEMALE; FRANCE; FRONTAL CORTEX; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MENTAL DETERIORATION; MINI MENTAL STATE EXAMINATION; MYOCLONUS EPILEPSY; NEUROPATHOLOGY; PRESENILE DEMENTIA; PRIORITY JOURNAL; PYRAMIDAL SIGN; SERPINI1 GENE; TENDON REFLEX; TONIC CLONIC SEIZURE;

ADULT; AMINO ACID SUBSTITUTION; DEMENTIA; EXONS; FEMALE; FRANCE; FRONTAL LOBE; GENOTYPE; HUMANS; INCLUSION BODIES; MALE; MUTATION, MISSENSE; MYOCLONIC EPILEPSIES, PROGRESSIVE; NEUROPEPTIDES; PEDIGREE; PHENOTYPE; POINT MUTATION; SERPINS; SWITZERLAND;

EID: 34347402007     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000265052.99144.b5     Document Type: Article

References (10)

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