Basel-Vanagaite L - Search Results

1

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. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.

2

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. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368

3

Clinical and brain imaging heterogeneity of severe microcephaly.

Basel-Vanagaite L, Dobyns WB. Basel-Vanagaite L, et al. Pediatr Neurol. 2010 Jul;43(1):7-16. doi: 10.1016/j.pediatrneurol.2010.02.015. Pediatr Neurol. 2010. PMID: 20682196

4

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. Chang BS, et al. Ann Neurol. 2003 May;53(5):596-606. doi: 10.1002/ana.10520. Ann Neurol. 2003. PMID: 12730993

5

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Van Maldergem L, et al. Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20. Neurology. 2008. PMID: 18716235 Free article.

6

Familial cognitive impairment with ataxia with oculomotor apraxia.

Mahajnah M, Basel-Vanagaite L, Inbar D, Kornreich L, Weitz R, Straussberg R. Mahajnah M, et al. J Child Neurol. 2005 Jun;20(6):523-5. doi: 10.1177/088307380502000610. J Child Neurol. 2005. PMID: 15996403

7

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.

Cohen R, Basel-Vanagaite L, Goldberg-Stern H, Halevy A, Shuper A, Feingold-Zadok M, Behar DM, Straussberg R. Cohen R, et al. Eur J Paediatr Neurol. 2014 Nov;18(6):801-5. doi: 10.1016/j.ejpn.2014.06.007. Epub 2014 Jul 5. Eur J Paediatr Neurol. 2014. PMID: 25033742

8

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?

Shkalim V, Ben-Sira L, Inbar D, Kaadan W, Basel-Vanagaite L, Straussberg R. Shkalim V, et al. Am J Med Genet A. 2011 May;155A(5):1060-5. doi: 10.1002/ajmg.a.33978. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465661

9

Infantile bilateral striatal necrosis maps to chromosome 19q.

Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M. Basel-Vanagaite L, et al. Neurology. 2004 Jan 13;62(1):87-90. doi: 10.1212/01.wnl.0000101680.49036.69. Neurology. 2004. PMID: 14718703

10

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.

Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA. Sheen VL, et al. Brain Dev. 2004 Aug;26(5):326-34. doi: 10.1016/j.braindev.2003.09.004. Brain Dev. 2004. PMID: 15165674

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