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Annals of Human Genetics|December 4, 2003
A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutationPenelope S Roberts, Vijaya Ramesh, Sandra Dabora, et al.Human Genetics|July 24, 2002
SNP identification, haplotype analysis, and parental origin of mutations in TSC2Penelope S Roberts, Joon Chung, Sergiusz Jozwiak, et al.Nature Medicine|June 24, 2008
Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosisDan Ehninger, Sangyeul Han, Carrie Shilyansky, et al.Journal of Neuropathology and Experimental Neurology|December 31, 2004
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activationJennifer A Chan, Hongbing Zhang, Penelope S Roberts, et al.Human Genetics|February 9, 2007
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlationsPiotr Kozlowski, Penelope Roberts, Sandra Dabora, et al.Cancer Biology & Therapy|November 14, 2003
Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosisDavid J KwiatkowskiLymphatic Research and Biology|March 19, 2010
Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC)David J KwiatkowskiIndian Journal of Pharmaceutical Sciences|June 23, 2011
Assessment of Immunomodulatory Activity of Euphorbia hirta LK Vijaya Ramesh, K PadmavathiNeurobiology of Disease|May 29, 2015
Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain modelShilpa Prabhakar, Xuan Zhang, June Goto, et al.Molecular Cancer Research : MCR|February 7, 2013
Equivalent benefit of rapamycin and a potent mTOR ATP-competitive inhibitor, MLN0128 (INK128), in a mouse model of tuberous sclerosisYanan Guo, David J KwiatkowskiPageof 34