| Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34 M Slegtenhorst, R Hoogt, C Hermans, M Nellist, B Janssen, S Verhoef, ... Science 277 (5327), 805-808, 1997 | 1903 | 1997 |
| Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference H Northrup, DA Krueger, S Roberds, K Smith, J Sampson, B Korf, ... Pediatric neurology 49 (4), 243-254, 2013 | 1617 | 2013 |
| 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 | 1144 | 2001 |
| Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference DA Krueger, H Northrup, S Roberds, K Smith, J Sampson, B Korf, ... Pediatric neurology 49 (4), 255-265, 2013 | 899 | 2013 |
| 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 | 884 | 2013 |
| Tuberous sclerosis complex EP Henske, S Jóźwiak, JC Kingswood, JR Sampson, EA Thiele Nature reviews Disease primers 2 (1), 1-18, 2016 | 603 | 2016 |
| Tuberous sclerosis complex: advances in diagnosis, genetics, and management RA Schwartz, G Fernández, K Kotulska, S Jóźwiak Journal of the American Academy of Dermatology 57 (2), 189-202, 2007 | 469 | 2007 |
| Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations H Northrup, ME Aronow, EM Bebin, J Bissler, TN Darling, PJ de Vries, ... Pediatric Neurology 123, 50-66, 2021 | 362 | 2021 |
| Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex S Jóźwiak, K Kotulska, D Domańska-Pakieła, B Łojszczyk, M Syczewska, ... european journal of paediatric neurology 15 (5), 424-431, 2011 | 352 | 2011 |
| Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients S Józwiak, RA Schwartz, CK Janniger, J Bielicka-Cymerman Journal of child neurology 15 (10), 652-659, 2000 | 297 | 2000 |
| 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 | 292 | 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 | 267 | 2011 |
| High rate of mosaicism in tuberous sclerosis complex S Verhoef, L Bakker, AMP Tempelaars, ALW Hesseling-Janssen, ... The American Journal of Human Genetics 64 (6), 1632-1637, 1999 | 238 | 1999 |
| Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012 J Roth, ES Roach, U Bartels, S Jóźwiak, MK Koenig, HL Weiner, ... Pediatric Neurology 49 (6), 439-444, 2013 | 218 | 2013 |
| 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 | 212 | 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 | 197 | 2006 |
| Add-on cannabidiol treatment for drug-resistant seizures in tuberous sclerosis complex: a placebo-controlled randomized clinical trial EA Thiele, EM Bebin, H Bhathal, FE Jansen, K Kotulska, JA Lawson, ... JAMA neurology 78 (3), 285-292, 2021 | 194 | 2021 |
| Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study DN Franz, E Belousova, S Sparagana, EM Bebin, MD Frost, R Kuperman, ... PloS one 11 (6), e0158476, 2016 | 194 | 2016 |
| Prevention of epilepsy in infants with tuberous sclerosis complex in the EPISTOP trial K Kotulska, DJ Kwiatkowski, P Curatolo, B Weschke, K Riney, F Jansen, ... Annals of neurology 89 (2), 304-314, 2021 | 193 | 2021 |
| Optic pathway gliomas in children with and without neurofibromatosis 1 E Czyzyk, S Jóźwiak, M Roszkowski, RA Schwartz Journal of child neurology 18 (7), 471-478, 2003 | 193 | 2003 |
Eric KossoffProfessor, Neurology, Johns HopkinsZweryfikowany adres z jhmi.edu
