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Page 1
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. Rudnik-Schöneborn S, et al. Among authors: sztriha l. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2. Neurology. 2013. PMID: 23284067 Free PMC article.
Unmasking of absence seizures by carbamazepine.
Aithala G, Sztriha L. Aithala G, et al. Among authors: sztriha l. Clin Pediatr (Phila). 2002 Mar;41(2):119-20. doi: 10.1177/000992280204100209. Clin Pediatr (Phila). 2002. PMID: 11931329 No abstract available.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: sztriha l. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Pontocerebellar hypoplasia type 1.
Szabó N, Szabó H, Hortobágyi T, Túri S, Sztriha L. Szabó N, et al. Among authors: sztriha l. Pediatr Neurol. 2008 Oct;39(4):286-8. doi: 10.1016/j.pediatrneurol.2008.06.017. Pediatr Neurol. 2008. PMID: 18805371
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT. Namavar Y, et al. Among authors: sztriha l. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G. Morris-Rosendahl DJ, et al. Among authors: sztriha l. Clin Genet. 2008 Nov;74(5):425-33. doi: 10.1111/j.1399-0004.2008.01093.x. Clin Genet. 2008. PMID: 18954413
217 results