Machado-Joseph disease and SCA3: The genotype meets the phenotypes

被引：35

作者：

Junck, L ^{[1
]}

Fink, JK ^{[1
]}

机构：

[1] UNIV MICHIGAN,DEPT NEUROL,ANN ARBOR,MI

来源：

NEUROLOGY | 1996年 / 46卷 / 01期

关键词：

D O I：

10.1212/WNL.46.1.4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：4 / 8

页数：5

共 37 条

[1] THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1 [J].

BENOMAR, A ;

KROLS, L ;

STEVANIN, G ;

CANCEL, G ;

LEGUERN, E ;

DAVID, G ;

OUHABI, H ;

MARTIN, JJ ;

DURR, A ;

ZAIM, A ;

RAVISE, N ;

BUSQUE, C ;

PENET, C ;

VANREGEMORTER, N ;

WEISSENBACH, J ;

YAHYAOUI, M ;

CHKILI, T ;

AGID, Y ;

Van Broeckhoven, C ;

BRICE, A .

NATURE GENETICS, 1995, 10 (01) :84-88

[2] THE HAW-RIVER-SYNDROME - DENTATORUBROPALLIDOLUYSIAN ATROPHY (DRPLA) IN AN AFRICAN-AMERICAN FAMILY [J].

BURKE, JR ;

WINGFIELD, MS ;

LEWIS, KE ;

ROSES, AD ;

LEE, JE ;

HULETTE, C ;

PERICAKVANCE, MA ;

VANCE, JM .

NATURE GENETICS, 1994, 7 (04) :521-524

[3] AUTOSOMAL DOMINANT CEREBELLAR-ATAXIA - CLINICAL ANALYSIS OF 263 PATIENTS FROM A HOMOGENEOUS POPULATION IN HOLGUIN, CUBA [J].

DIAZ, GO ;

FLEITES, AN ;

SAGAZ, RC ;

AUBURGER, G .

NEUROLOGY, 1990, 40 (09) :1369-1375

[4] ANALYSIS OF THE SCA1 CAG REPEAT IN A LARGE NUMBER OF FAMILIES WITH DOMINANT ATAXIA - CLINICAL AND MOLECULAR CORRELATIONS [J].

DUBOURG, O ;

DURR, A ;

CANCEL, G ;

STEVANIN, G ;

CHNEIWEISS, H ;

PENET, C ;

AGID, Y ;

BRICE, A .

ANNALS OF NEUROLOGY, 1995, 37 (02) :176-180

[5] HAS SPINOCEREBELLAR ATAXIA TYPE-2 A DISTINCT PHENOTYPE - GENETIC AND CLINICAL-STUDY OF AN ITALIAN FAMILY [J].

FILLA, A ;

DEMICHELE, G ;

BANFI, S ;

SANTORO, L ;

PERRETTI, A ;

CAVALCANTI, F ;

PIANESE, L ;

CASTALDO, I ;

BARBIERI, F ;

CAMPANELLA, G ;

COCOZZA, S .

NEUROLOGY, 1995, 45 (04) :793-796

[6]

GARDNER K, 1994, NEUROLOGY, V44, pA361

[7] CLINICAL, NEUROPATHOLOGIC, AND GENETIC-STUDIES OF A LARGE SPINOCEREBELLAR ATAXIA TYPE-1 (SCA1) KINDRED - (CAG)(N) EXPANSION AND EARLY PREMONITORY SIGNS AND SYMPTOMS [J].

GENIS, D ;

MATILLA, T ;

VOLPINI, V ;

ROSELL, J ;

DAVALOS, A ;

FERRER, I ;

MOLINS, A ;

ESTIVILL, X .

NEUROLOGY, 1995, 45 (01) :24-30

[8] CHROMOSOMAL ASSIGNMENT OF THE 2ND LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA2) TO CHROMOSOME 12Q23-24.1 [J].

GISPERT, S ;

TWELLS, R ;

OROZCO, G ;

BRICE, A ;

WEBER, J ;

HEREDERO, L ;

SCHEUFLER, K ;

RILEY, B ;

ALLOTEY, R ;

NOTHERS, C ;

HILLERMANN, R ;

LUNKES, A ;

KHATI, C ;

STEVANIN, G ;

HERNANDEZ, A ;

MAGARINO, C ;

KLOCKGETHER, T ;

DURR, A ;

CHNEIWEISS, H ;

ENCZMANN, J ;

FARRALL, M ;

BECKMANN, J ;

MULLAN, M ;

WERNET, P ;

AGID, Y ;

FREUND, HJ ;

WILLIAMSON, R ;

AUBURGER, G ;

CHAMBERLAIN, S .

NATURE GENETICS, 1993, 4 (03) :295-299

[9] THE TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS [J].

GIUNTI, P ;

SWEENEY, MG ;

SPADARO, M ;

JODICE, C ;

NOVELLETTO, A ;

MALASPINA, P ;

FRONTALI, M ;

HARDING, AE .

BRAIN, 1994, 117 :645-649

[10] FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFELDT-JAKOB DISEASE - DISEASE PHENOTYPE DETERMINED BY A DNA POLYMORPHISM [J].

GOLDFARB, LG ;

PETERSEN, RB ;

TABATON, M ;

BROWN, P ;

LEBLANC, AC ;

MONTAGNA, P ;

CORTELLI, P ;

JULIEN, J ;

VITAL, C ;

PENDELBURY, WW ;

HALTIA, M ;

WILLS, PR ;

HAUW, JJ ;

MCKEEVER, PE ;

MONARI, L ;

SCHRANK, B ;

SWERGOLD, GD ;

AUTILIOGAMBETTI, L ;

GAJDUSEK, DC ;

LUGARESI, E ;

GAMBETTI, P .

SCIENCE, 1992, 258 (5083) :806-808

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