Jozwiak S - Search Results

1

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers.

Mühlebner A, van Scheppingen J, de Neef A, Bongaarts A, Zimmer TS, Mills JD, Jansen FE, Spliet WGM, Krsek P, Zamecnik J, Coras R, Blumcke I, Feucht M, Scholl T, Gruber VE, Hainfellner JA, Söylemezoğlu F, Kotulska K, Lagae L, Jansen AC, Kwiatkowski DJ, Jozwiak S, Curatolo P, Aronica E. Mühlebner A, et al. Among authors: jozwiak s. J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1054-1064. doi: 10.1093/jnen/nlaa090. J Neuropathol Exp Neurol. 2020. PMID: 32954437 Free PMC article.

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

Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence.

Jurkiewicz E, Jozwiak S, Bekiesinska-Figatowska M, Pakula-Kosciesza I, Walecki J. Jurkiewicz E, et al. Among authors: jozwiak s. Pediatr Radiol. 2006 Jun;36(6):498-501. doi: 10.1007/s00247-006-0142-1. Epub 2006 Mar 28. Pediatr Radiol. 2006. PMID: 16568295

9

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

10

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.

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