| 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 | 1685 | 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 | 1301 | 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 | 1027 | 2001 |
| 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 | 1027 | 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 | 757 | 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 | 751 | 2013 |
| 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 | 424 | 2007 |
| Tuberous sclerosis complex EP Henske, S Jóźwiak, JC Kingswood, JR Sampson, EA Thiele Nature Reviews Disease Primers 2 (1), 1-18, 2016 | 357 | 2016 |
| 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 | 290 | 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 | 279 | 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 | 272 | 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 | 225 | 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 | 214 | 1999 |
| 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 (3), 389-400, 2007 | 191 | 2007 |
| 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 | 173 | 2013 |
| 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 | 173 | 2006 |
| 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 | 164 | 2003 |
| Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations P Curatolo, S Jóźwiak, R Nabbout european journal of paediatric neurology 16 (6), 582-586, 2012 | 156 | 2012 |
| Possible mechanisms of disease development in tuberous sclerosis J Jozwiak, S Jozwiak, P Wlodarski The lancet oncology 9 (1), 73-79, 2008 | 149 | 2008 |
| Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome KH Chrzanowska, WJ Kleijer, M Krajewska‐Walasek, M Białecka, ... American journal of medical genetics 57 (3), 462-471, 1995 | 137 | 1995 |
Eric KossoffProfessor, Neurology, Johns HopkinsZweryfikowany adres z jhmi.edu
