New developments in the neurobiology of the tuberous sclerosis complex

被引:110
作者
Crino, PB
Henske, EP
机构
[1] Univ Penn, Med Ctr, Dept Neurol, Philadelphia, PA 19104 USA
[2] Univ Penn, Med Ctr, Epilepsy Ctr, Philadelphia, PA 19104 USA
[3] Fox Chase Canc Ctr, Dept Med Oncol, Philadelphia, PA 19111 USA
关键词
neurobiology; tuberous sclerosis complex; mutations;
D O I
10.1212/WNL.53.7.1384
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:1384 / 1390
页数:7
相关论文
共 63 条
[1]   Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients [J].
Au, KS ;
Rodriguez, JA ;
Finch, JL ;
Volcik, KA ;
Roach, ES ;
Delgado, MR ;
Rodriguez, E ;
Northrup, H .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (02) :286-294
[2]  
Bourneville D., 1880, ARCH NEUROL-PARIS, V1, P81
[3]   9Q34 LOSS OF HETEROZYGOSITY IN A TUBEROUS SCLEROSIS ASTROCYTOMA SUGGESTS A GROWTH SUPPRESSOR-LIKE ACTIVITY ALSO FOR THE TSC1 GENE [J].
CARBONARA, C ;
LONGA, L ;
GROSSO, E ;
BORRONE, C ;
GARRE, MG ;
BRISIGOTTI, M ;
MIGONE, N .
HUMAN MOLECULAR GENETICS, 1994, 3 (10) :1829-1832
[4]   Embryonic neuronal markers in tuberous sclerosis: Single-cell molecular pathology [J].
Crino, PB ;
Trojanowski, JQ ;
Dichter, MA ;
Eberwine, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (24) :14152-14157
[5]   Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues [J].
Geist, RT ;
Reddy, AJ ;
Zhang, J ;
Gutmann, DH .
NEUROBIOLOGY OF DISEASE, 1996, 3 (02) :111-120
[6]  
GEIST RT, 1995, CELL GROWTH DIFFER, V6, P1477
[7]  
Gomez M.R., 1988, TUBEROUS SCLEROSIS, VSecond
[8]   LOSS OF HETEROZYGOSITY ON CHROMOSOME 16P13.3 IN HAMARTOMAS FROM TUBEROUS SCLEROSIS PATIENTS [J].
GREEN, AJ ;
SMITH, M ;
YATES, JRW .
NATURE GENETICS, 1994, 6 (02) :193-196
[9]   Alterations in the rap1 signaling pathway are common in human gliomas [J].
Gutmann, DH ;
SaporitoIrwin, S ;
DeClue, JE ;
Wienecke, R ;
Guha, A .
ONCOGENE, 1997, 15 (13) :1611-1616
[10]  
Gyure KA, 1997, MODERN PATHOL, V10, P313