These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
24. A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. Sato T; Kato M; Moriyama K; Haraguchi K; Saitsu H; Matsumoto N; Moriuchi H Brain Dev; 2018 Oct; 40(9):819-823. PubMed ID: 29907476 [TBL] [Abstract][Full Text] [Related]
25. Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Poirier K; Saillour Y; Fourniol F; Francis F; Souville I; Valence S; Desguerre I; Marie Lepage J; Boddaert N; Line Jacquemont M; Beldjord C; Chelly J; Bahi-Buisson N Eur J Hum Genet; 2013 Apr; 21(4):381-5. PubMed ID: 22948023 [TBL] [Abstract][Full Text] [Related]
32. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Brock S; Stouffs K; Scalais E; D'Hooghe M; Keymolen K; Guerrini R; Dobyns WB; Di Donato N; Jansen AC Eur J Hum Genet; 2018 Aug; 26(8):1132-1142. PubMed ID: 29706637 [TBL] [Abstract][Full Text] [Related]
33. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Poirier K; Keays DA; Francis F; Saillour Y; Bahi N; Manouvrier S; Fallet-Bianco C; Pasquier L; Toutain A; Tuy FP; Bienvenu T; Joriot S; Odent S; Ville D; Desguerre I; Goldenberg A; Moutard ML; Fryns JP; van Esch H; Harvey RJ; Siebold C; Flint J; Beldjord C; Chelly J Hum Mutat; 2007 Nov; 28(11):1055-64. PubMed ID: 17584854 [TBL] [Abstract][Full Text] [Related]
34. Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature. Mencarelli A; Prontera P; Stangoni G; Mencaroni E; Principi N; Esposito S Int J Mol Sci; 2017 Oct; 18(11):. PubMed ID: 29109381 [TBL] [Abstract][Full Text] [Related]
36. Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases. Romaniello R; Arrigoni F; Cavallini A; Tenderini E; Baschirotto C; Triulzi F; Bassi MT; Borgatti R Dev Med Child Neurol; 2014 Apr; 56(4):354-60. PubMed ID: 24392928 [TBL] [Abstract][Full Text] [Related]
37. Genetic malformations of the cerebral cortex and epilepsy. Guerrini R Epilepsia; 2005; 46 Suppl 1():32-7. PubMed ID: 15816977 [TBL] [Abstract][Full Text] [Related]
38. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Bahi-Buisson N; Poirier K; Boddaert N; Fallet-Bianco C; Specchio N; Bertini E; Caglayan O; Lascelles K; Elie C; Rambaud J; Baulac M; An I; Dias P; des Portes V; Moutard ML; Soufflet C; El Maleh M; Beldjord C; Villard L; Chelly J Brain; 2010 Nov; 133(11):3194-209. PubMed ID: 20929962 [TBL] [Abstract][Full Text] [Related]
39. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA; Fernandez L; Nieh SE; Rider E; Bukshpun P; Wakahiro M; Christian SL; Rivière JB; Sullivan CT; Sudi J; Herriges MJ; Paciorkowski AR; Barkovich AJ; Glessner JT; Millen KJ; Hakonarson H; Dobyns WB; Sherr EH PLoS Genet; 2013; 9(10):e1003823. PubMed ID: 24098143 [TBL] [Abstract][Full Text] [Related]