ABSENCE OF THE AMYLOID PRECURSOR PROTEIN GENE MUTATION (APP717-VAL-GREATER-THAN-ILE) IN 85 CASES OF EARLY ONSET ALZHEIMERS-DISEASE

被引:9
作者
BRICE, A
BOCH, AL
STEVANIN, G
KHATI, C
DUBOIS, B
AGID, Y
CAMPION, D
CLERGET, F
MALLET, J
BELLIS, M
MICHON, A
PILLON, B
MARTINEZ, M
BABRON, MC
HANNEQUIN, D
PUEL, M
LEDOZE, F
PASQUIER, F
ZIMMERMANN, MA
DESI, M
VERCELETTO, M
THOMASANTERION, C
LEMAITRE, MH
PELLAT, J
GOAS, JY
TOUCHON, J
ALICHERIF, A
ORGOGOZO, JM
机构
[1] HOP LA PITIE SALPETRIERE, INSERM, U289, 47 BD HOP, F-75651 PARIS 13, FRANCE
[2] CHATEAU LONGCHAMP, INSERM 1155, PARIS, FRANCE
[3] CNRS, F-91190 GIF SUR YVETTE, FRANCE
[4] CNRS, UPR 8402, INSERM, U249, F-34033 MONTPELLIER, FRANCE
[5] HOP CHARLES NICOLLE, F-76031 ROUEN, FRANCE
[6] CHU PURPAN, TOULOUSE, FRANCE
[7] HOP LILLE, LILLE, FRANCE
[8] HOP BICETRE, CRNN, PARIS, FRANCE
[9] HOP LAENNEC, NANTES, FRANCE
[10] HOP PONTCHAILLOU, RENNES, FRANCE
[11] CHU GRENOBLE, F-38043 GRENOBLE, FRANCE
[12] CHU CAEN, F-14033 CAEN, FRANCE
[13] HOP CIVIL, F-67091 STRASBOURG, FRANCE
[14] HOP BELLEVUE, F-42100 ST ETIENNE, FRANCE
[15] CHU TIMONE, F-13385 MARSEILLE, FRANCE
[16] CHU BREST, F-29279 BREST, FRANCE
[17] HOP LAPEYRONIE, MONTPELLIER, FRANCE
[18] HOP PELLEGRIN, F-33076 BORDEAUX, FRANCE
关键词
D O I
10.1136/jnnp.56.1.112-a
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:112 / 113
页数:2
相关论文
共 10 条
[1]   SCREENING FOR THE BETA-AMYLOID PRECURSOR PROTEIN MUTATION (APP717-VAL-]ILE) IN EXTENDED PEDIGREES WITH EARLY ONSET ALZHEIMERS-DISEASE [J].
CHARTIERHARLIN, MC ;
CRAWFORD, F ;
HAMANDI, K ;
MULLAN, M ;
GOATE, A ;
HARDY, J ;
BACKHOVENS, H ;
MARTIN, JJ ;
VAN BROECKHOVEN, C .
NEUROSCIENCE LETTERS, 1991, 129 (01) :134-135
[2]   EARLY-ONSET ALZHEIMERS-DISEASE CAUSED BY MUTATIONS AT CODON-717 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE [J].
CHARTIERHARLIN, MC ;
CRAWFORD, F ;
HOULDEN, H ;
WARREN, A ;
HUGHES, D ;
FIDANI, L ;
GOATE, A ;
ROSSOR, M ;
ROQUES, P ;
HARDY, J ;
MULLAN, M .
NATURE, 1991, 353 (6347) :844-846
[3]  
George Hyslop P. St., 1990, NATURE, V347, P194
[4]   SEGREGATION OF A MISSENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE WITH FAMILIAL ALZHEIMERS-DISEASE [J].
GOATE, A ;
CHARTIERHARLIN, MC ;
MULLAN, M ;
BROWN, J ;
CRAWFORD, F ;
FIDANI, L ;
GIUFFRA, L ;
HAYNES, A ;
IRVING, N ;
JAMES, L ;
MANT, R ;
NEWTON, P ;
ROOKE, K ;
ROQUES, P ;
TALBOT, C ;
PERICAKVANCE, M ;
ROSES, A ;
WILLIAMSON, R ;
ROSSOR, M ;
OWEN, M ;
HARDY, J .
NATURE, 1991, 349 (6311) :704-706
[5]  
MCKHANN G, 1984, NEUROLOGY, V34, P939, DOI 10.1212/WNL.34.7.939
[6]   A MUTATION IN THE AMYLOID PRECURSOR PROTEIN ASSOCIATED WITH HEREDITARY ALZHEIMERS-DISEASE [J].
MURRELL, J ;
FARLOW, M ;
GHETTI, B ;
BENSON, MD .
SCIENCE, 1991, 254 (5028) :97-99
[7]   MIS-SENSE MUTATION VAL-]ILE IN EXON-17 OF AMYLOID PRECURSOR PROTEIN GENE IN JAPANESE FAMILIAL ALZHEIMERS-DISEASE [J].
NARUSE, S ;
IGARASHI, S ;
AOKI, K ;
KANEKO, K ;
IIHARA, K ;
MIYATAKE, T ;
KOBAYASHI, H ;
INUZUKA, T ;
SHIMIZU, T ;
KOJIMA, T ;
TSUJI, S .
LANCET, 1991, 337 (8747) :978-979
[8]  
SCHELLENBERG GD, 1991, AM J HUM GENET, V49, P511
[9]   AMYLOID PRECURSOR PROTEIN GENE MUTATION IN EARLY-ONSET ALZHEIMERS-DISEASE [J].
VANDUIJN, CM ;
HENDRIKS, L ;
CRUTS, M ;
HARDY, JA ;
HOFMAN, A ;
VAN BROECKHOVEN, C .
LANCET, 1991, 337 (8747) :978-978
[10]  
1991, LANCET, V337, P1342