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| Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs SL Dabora, S Jozwiak, DN Franz, PS Roberts, A Nieto, J Chung, YS Choy, ... The American Journal of Human Genetics 68 (1), 64-80, 2001 | 1134 | 2001 |
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| Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled … DN Franz, E Belousova, S Sparagana, EM Bebin, M Frost, R Kuperman, ... The Lancet 381 (9861), 125-132, 2013 | 878 | 2013 |
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| Pathogenesis of Tuberous Sclerosis Subependymal Giant Cell Astrocytomas: Biallelic Inactivation of TSC1 or TSC2 Leads to mTOR Activation JA Chan, H Zhang, PS Roberts, S Jozwiak, G Wieslawa, J Lewin-Kowalik, ... Journal of Neuropathology & Experimental Neurology 63 (12), 1236-1242, 2004 | 291 | 2004 |
| Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation MB Hartig, A Iuso, T Haack, T Kmiec, E Jurkiewicz, K Heim, S Roeber, ... The American Journal of Human Genetics 89 (4), 543-550, 2011 | 266 | 2011 |
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| Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations P Kozlowski, P Roberts, S Dabora, D Franz, J Bissler, H Northrup, KS Au, ... Human genetics 121, 389-400, 2007 | 210 | 2007 |
| Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex S Jóźwiak, K Kotulska, J Kasprzyk-Obara, D Domańska-Pakieła, ... Pediatrics 118 (4), e1146-e1151, 2006 | 195 | 2006 |
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Eric KossoffProfessor, Neurology, Johns HopkinsVerified email at jhmi.edu
