286 related articles for article (PubMed ID: 15994863)
21. Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
Kakita A; Hayashi S; Moro F; Guerrini R; Ozawa T; Ono K; Kameyama S; Walsh CA; Takahashi H
Acta Neuropathol; 2002 Dec; 104(6):649-57. PubMed ID: 12410386
[TBL] [Abstract][Full Text] [Related]
22. Autosomal recessive form of periventricular heterotopia.
Sheen VL; Topçu M; Berkovic S; Yalnizoglu D; Blatt I; Bodell A; Hill RS; Ganesh VS; Cherry TJ; Shugart YY; Walsh CA
Neurology; 2003 Apr; 60(7):1108-12. PubMed ID: 12682315
[TBL] [Abstract][Full Text] [Related]
23. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot P; Coupry I; Rooryck C; Deforges J; Maurat E; Solé G; Boute O; Dieux-Coeslier A; David A; Marchal C; Thambo JB; Lacombe D; Arveiler B; Goizet C
Eur J Med Genet; 2012 May; 55(5):313-8. PubMed ID: 22366253
[TBL] [Abstract][Full Text] [Related]
24. Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia.
Lu J; Tiao G; Folkerth R; Hecht J; Walsh C; Sheen V
J Comp Neurol; 2006 Jan; 494(3):476-84. PubMed ID: 16320251
[TBL] [Abstract][Full Text] [Related]
25. FLNA genomic rearrangements cause periventricular nodular heterotopia.
Clapham KR; Yu TW; Ganesh VS; Barry B; Chan Y; Mei D; Parrini E; Funalot B; Dupuis L; Nezarati MM; du Souich C; van Karnebeek C; Guerrini R; Walsh CA
Neurology; 2012 Jan; 78(4):269-78. PubMed ID: 22238415
[TBL] [Abstract][Full Text] [Related]
26. Periventricular nodular heterotopia: report of a pediatric series.
Spalice A; Taddeucci G; Perla FM; Pascali MP; Iannetti P
J Child Neurol; 2002 Apr; 17(4):300-4. PubMed ID: 12088088
[TBL] [Abstract][Full Text] [Related]
27. Periventricular nodular heterotopia with overlying polymicrogyria.
Wieck G; Leventer RJ; Squier WM; Jansen A; Andermann E; Dubeau F; Ramazzotti A; Guerrini R; Dobyns WB
Brain; 2005 Dec; 128(Pt 12):2811-21. PubMed ID: 16311271
[TBL] [Abstract][Full Text] [Related]
28. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP; Twigg SR; Sutherland-Smith AJ; Biancalana V; Gorlin RJ; Horn D; Kenwrick SJ; Kim CA; Morava E; Newbury-Ecob R; Orstavik KH; Quarrell OW; Schwartz CE; Shears DJ; Suri M; Kendrick-Jones J; Wilkie AO;
Nat Genet; 2003 Apr; 33(4):487-91. PubMed ID: 12612583
[TBL] [Abstract][Full Text] [Related]
29. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
Clark AR; Sawyer GM; Robertson SP; Sutherland-Smith AJ
Hum Mol Genet; 2009 Dec; 18(24):4791-800. PubMed ID: 19773341
[TBL] [Abstract][Full Text] [Related]
30. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
Moro F; Carrozzo R; Veggiotti P; Tortorella G; Toniolo D; Volzone A; Guerrini R
Neurology; 2002 Mar; 58(6):916-21. PubMed ID: 11914408
[TBL] [Abstract][Full Text] [Related]
31. Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.
Parrini E; Mei D; Wright M; Dorn T; Guerrini R
Neurogenetics; 2004 Sep; 5(3):191-6. PubMed ID: 15459826
[TBL] [Abstract][Full Text] [Related]
32. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
Gérard-Blanluet M; Sheen V; Machinis K; Neal J; Apse K; Danan C; Sinico M; Brugières P; Mage K; Ratsimbazafy L; Elbez A; Janaud JC; Amselem S; Walsh C; Encha-Razavi F
Am J Med Genet A; 2006 May; 140(10):1041-6. PubMed ID: 16596669
[TBL] [Abstract][Full Text] [Related]
33. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
Zenker M; Rauch A; Winterpacht A; Tagariello A; Kraus C; Rupprecht T; Sticht H; Reis A
Am J Hum Genet; 2004 Apr; 74(4):731-7. PubMed ID: 14988809
[TBL] [Abstract][Full Text] [Related]
34. Structure of the human filamin A actin-binding domain.
Ruskamo S; Ylänne J
Acta Crystallogr D Biol Crystallogr; 2009 Nov; 65(Pt 11):1217-21. PubMed ID: 19923718
[TBL] [Abstract][Full Text] [Related]
35. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Fox JW; Lamperti ED; Ekşioğlu YZ; Hong SE; Feng Y; Graham DA; Scheffer IE; Dobyns WB; Hirsch BA; Radtke RA; Berkovic SF; Huttenlocher PR; Walsh CA
Neuron; 1998 Dec; 21(6):1315-25. PubMed ID: 9883725
[TBL] [Abstract][Full Text] [Related]
36. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
Kyndt F; Gueffet JP; Probst V; Jaafar P; Legendre A; Le Bouffant F; Toquet C; Roy E; McGregor L; Lynch SA; Newbury-Ecob R; Tran V; Young I; Trochu JN; Le Marec H; Schott JJ
Circulation; 2007 Jan; 115(1):40-9. PubMed ID: 17190868
[TBL] [Abstract][Full Text] [Related]
37. Novel cardiac findings in periventricular nodular heterotopia.
Jefferies JL; Taylor MD; Rossano J; Belmont JW; Craigen WJ
Am J Med Genet A; 2010 Jan; 152A(1):165-8. PubMed ID: 20014127
[TBL] [Abstract][Full Text] [Related]
38. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
Ferland RJ; Batiz LF; Neal J; Lian G; Bundock E; Lu J; Hsiao YC; Diamond R; Mei D; Banham AH; Brown PJ; Vanderburg CR; Joseph J; Hecht JL; Folkerth R; Guerrini R; Walsh CA; Rodriguez EM; Sheen VL
Hum Mol Genet; 2009 Feb; 18(3):497-516. PubMed ID: 18996916
[TBL] [Abstract][Full Text] [Related]
39. Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia.
Verrotti A; Monacelli D; Castagnino M; Villa MP; Parisi P
Seizure; 2014 Nov; 23(10):819-24. PubMed ID: 25131162
[TBL] [Abstract][Full Text] [Related]
40. Heterogeneity of platelet functional alterations in patients with filamin A mutations.
Berrou E; Adam F; Lebret M; Fergelot P; Kauskot A; Coupry I; Jandrot-Perrus M; Nurden A; Favier R; Rosa JP; Goizet C; Nurden P; Bryckaert M
Arterioscler Thromb Vasc Biol; 2013 Jan; 33(1):e11-8. PubMed ID: 23117662
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
