Jóźwiak S - Search Results

1

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.

Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Kotulska K, et al. Among authors: jozwiak s. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. Ann Neurol. 2021. PMID: 33180985 Free PMC article. Clinical Trial.

2

SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ. Roberts PS, et al. Among authors: jozwiak s. Hum Genet. 2002 Jul;111(1):96-101. doi: 10.1007/s00439-002-0738-y. Epub 2002 Jun 7. Hum Genet. 2002. PMID: 12136241

3

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ. Dabora SL, et al. Among authors: jozwiak s. Am J Hum Genet. 2002 Oct;71(4):750-8. doi: 10.1086/342718. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192641 Free PMC article.

4

Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis.

Jóźwiak S, Kwiatkowski D, Kotulska K, Larysz-Brysz M, Lewin-Kowalik J, Grajkowska W, Roszkowski M. Jóźwiak S, et al. J Child Neurol. 2004 Feb;19(2):102-6. doi: 10.1177/08830738040190020401. J Child Neurol. 2004. PMID: 15072102

5

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ. Chan JA, et al. Among authors: jozwiak s. J Neuropathol Exp Neurol. 2004 Dec;63(12):1236-42. doi: 10.1093/jnen/63.12.1236. J Neuropathol Exp Neurol. 2004. PMID: 15624760

6

Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

Rok P, Kasprzyk-Obara J, Domańska-Pakieła D, Jóźwiak S. Rok P, et al. Among authors: jozwiak s. Med Sci Monit. 2005 May;11(5):CR230-234. Epub 2005 Apr 28. Med Sci Monit. 2005. PMID: 15874888

7

Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.

Jóźwiak S, Domańska-Pakieła D, Kwiatkowski DJ, Kotulska K. Jóźwiak S, et al. J Child Neurol. 2005 Dec;20(12):988-9. doi: 10.1177/08830738050200121101. J Child Neurol. 2005. PMID: 16417848

8

Epidermal nevus syndrome and intraspinal hemorrhage.

Kotulska K, Jurkiewcz E, Jóźwiak S, Kuczyński D. Kotulska K, et al. Among authors: jozwiak s. Brain Dev. 2006 Sep;28(8):541-3. doi: 10.1016/j.braindev.2006.02.007. Epub 2006 Apr 17. Brain Dev. 2006. PMID: 16616999

9

Similarity of balloon cells in focal cortical dysplasia to giant cells in tuberous sclerosis.

Jozwiak J, Kotulska K, Jozwiak S. Jozwiak J, et al. Among authors: jozwiak s. Epilepsia. 2006 Apr;47(4):805. doi: 10.1111/j.1528-1167.2006.00531_1.x. Epilepsia. 2006. PMID: 16650151 Free article. No abstract available.

10

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex.

Jóźwiak S, Kotulska K, Kasprzyk-Obara J, Domańska-Pakieła D, Tomyn-Drabik M, Roberts P, Kwiatkowski D. Jóźwiak S, et al. Pediatrics. 2006 Oct;118(4):e1146-51. doi: 10.1542/peds.2006-0504. Epub 2006 Aug 28. Pediatrics. 2006. PMID: 16940165

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