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Sergiusz Jóźwiak
Sergiusz Jóźwiak
Profesor dr hab.med., Warszawski Uniwersytet Medyczny
Verified email at czd.pl
Title
Cited by
Cited by
Year
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
18951997
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
15792013
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
11302001
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
11302001
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
8892013
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
8762013
Tuberous sclerosis complex
EP Henske, S Jóźwiak, JC Kingswood, JR Sampson, EA Thiele
Nature reviews Disease primers 2 (1), 1-18, 2016
5712016
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
4672007
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
3452011
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
3082021
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
2932000
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
2902004
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
2662011
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
2351999
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
2132013
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
2102007
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
1952006
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
1912003
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
1872016
Management of epilepsy associated with tuberous sclerosis complex: updated clinical recommendations
P Curatolo, R Nabbout, L Lagae, E Aronica, JC Ferreira, M Feucht, ...
European Journal of Paediatric Neurology 22 (5), 738-748, 2018
1802018
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