CHARCOT-MARIE-TOOTH DISEASE TYPE-1A, 9 NOVEMBER 1992, SAN-FRANCISCO, CA, USA

被引：4

作者：

FISCHBECK, KH ^{[1
]}

机构：

[1] UNIV PENN, DEPT NEUROL, PHILADELPHIA, PA 19104 USA

来源：

NEUROMUSCULAR DISORDERS | 1993年 / 3卷 / 01期

关键词：

D O I：

10.1016/0960-8966(93)90046-M

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：81 / 82

页数：2

共 22 条

[1] TRISOMY-17P ASSOCIATED WITH CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1A PHENOTYPE - EVIDENCE FOR GENE DOSAGE AS A MECHANISM IN CMT1A [J].

CHANCE, PF ;

BIRD, TD ;

MATSUNAMI, N ;

LENSCH, MW ;

BROTHMAN, AR ;

FELDMAN, GM .

NEUROLOGY, 1992, 42 (12) :2295-2299

[2] DNA DELETION ASSOCIATED WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES [J].

CHANCE, PF ;

ALDERSON, MK ;

LEPPIG, KA ;

LENSCH, MW ;

MATSUNAMI, N ;

SMITH, B ;

SWANSON, PD ;

ODELBERG, SJ ;

DISTECHE, CM ;

BIRD, TD .

CELL, 1993, 72 (01) :143-151

[3]

Greenberg F., 1992, American Journal of Human Genetics, V51, pA12

[4]

Lebo R. V., 1992, American Journal of Human Genetics, V51, pA260

[5] GENE DOSAGE IS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE-1A [J].

LUPSKI, JR ;

WISE, CA ;

KUWANO, A ;

PENTAO, L ;

PARKE, JT ;

GLAZE, DG ;

LEDBETTER, DH ;

GREENBERG, F ;

PATEL, PI .

NATURE GENETICS, 1992, 1 (01) :29-33

[6] DNA DUPLICATION ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE-1A [J].

LUPSKI, JR ;

DEOCALUNA, RM ;

SLAUGENHAUPT, S ;

PENTAO, L ;

GUZZETTA, V ;

TRASK, BJ ;

SAUCEDOCARDENAS, O ;

BARKER, DF ;

KILLIAN, JM ;

GARCIA, CA ;

CHAKRAVARTI, A ;

PATEL, PI .

CELL, 1991, 66 (02) :219-232

[7] PERIPHERAL MYELIN PROTEIN-22 GENE MAPS IN THE DUPLICATION IN CHROMOSOME-17P11.2 ASSOCIATED WITH CHARCOT-MARIE-TOOTH-1A [J].

MATSUNAMI, N ;

SMITH, B ;

BALLARD, L ;

LENSCH, MW ;

ROBERTSON, M ;

ALBERTSEN, H ;

HANEMANN, CO ;

MULLER, HW ;

BIRD, TD ;

WHITE, R ;

CHANCE, PF .

NATURE GENETICS, 1992, 1 (03) :176-179

[8] A YEAST ARTIFICIAL CHROMOSOME CONTIG SPANNING THE CHARCOT - MARIE - TOOTH DISEASE TYPE-1A DUPLICATION REGION [J].

NIEUWENHUIJSEN, BW ;

CHEN, KL ;

CHINAULT, AC ;

WANG, S ;

VALMIKI, VH ;

MEERSHOEK, EJ ;

VANOMMEN, GJB ;

FISCHBECK, KH .

HUMAN MOLECULAR GENETICS, 1992, 1 (08) :605-612

[9] THE GENE FOR THE PERIPHERAL MYELIN PROTEIN-PMP-22 IS A CANDIDATE FOR CHARCOT-MARIE-TOOTH DISEASE TYPE-1A [J].

PATEL, PI ;

ROA, BB ;

WELCHER, AA ;

SCHOENERSCOTT, R ;

TRASK, BJ ;

PENTAO, L ;

SNIPES, GJ ;

GARCIA, CA ;

FRANCKE, U ;

SHOOTER, EM ;

LUPSKI, JR ;

SUTER, U .

NATURE GENETICS, 1992, 1 (03) :159-165

[10] CHARCOT-MARIE-TOOTH TYPE-1A DUPLICATION APPEARS TO ARISE FROM RECOMBINATION AT REPEAT SEQUENCES FLANKING THE 1.5 MB MONOMER UNIT [J].

PENTAO, L ;

WISE, CA ;

CHINAULT, AC ;

PATEL, PI ;

LUPSKI, JR .

NATURE GENETICS, 1992, 2 (04) :292-300

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