252 related articles for article (PubMed ID: 22948023)
1. 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]
2. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Cushion TD; Dobyns WB; Mullins JG; Stoodley N; Chung SK; Fry AE; Hehr U; Gunny R; Aylsworth AS; Prabhakar P; Uyanik G; Rankin J; Rees MI; Pilz DT
Brain; 2013 Feb; 136(Pt 2):536-48. PubMed ID: 23361065
[TBL] [Abstract][Full Text] [Related]
3. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N; Poirier K; Fourniol F; Saillour Y; Valence S; Lebrun N; Hully M; Bianco CF; Boddaert N; Elie C; Lascelles K; Souville I; ; Beldjord C; Chelly J
Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
[TBL] [Abstract][Full Text] [Related]
4. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Bahi-Buisson N; Poirier K; Boddaert N; Saillour Y; Castelnau L; Philip N; Buyse G; Villard L; Joriot S; Marret S; Bourgeois M; Van Esch H; Lagae L; Amiel J; Hertz-Pannier L; Roubertie A; Rivier F; Pinard JM; Beldjord C; Chelly J
J Med Genet; 2008 Oct; 45(10):647-53. PubMed ID: 18728072
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.
Zanni G; Colafati GS; Barresi S; Randisi F; Talamanca LF; Genovese E; Bellacchio E; Bartuli A; Bernardi B; Bertini E
Eur J Paediatr Neurol; 2013 Jul; 17(4):361-5. PubMed ID: 23317684
[TBL] [Abstract][Full Text] [Related]
7. TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.
Jansen AC; Oostra A; Desprechins B; De Vlaeminck Y; Verhelst H; Régal L; Verloo P; Bockaert N; Keymolen K; Seneca S; De Meirleir L; Lissens W
Neurology; 2011 Mar; 76(11):988-92. PubMed ID: 21403111
[TBL] [Abstract][Full Text] [Related]
8. Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
Weber M; Jaber D; Encha-Razavi F; Julien E; Grevoul-Fesquet J; Steffann J; Melki J; Martinovic J
Am J Med Genet A; 2022 Aug; 188(8):2331-2338. PubMed ID: 35686685
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11.
Hoff KJ; Aiken JE; Gutierrez MA; Franco SJ; Moore JK
Elife; 2022 May; 11():. PubMed ID: 35511030
[TBL] [Abstract][Full Text] [Related]
12. TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation.
Myers KA; Bello-Espinosa LE; Kherani A; Wei XC; Innes AM
Pediatr Neurol; 2015 Nov; 53(5):442-4. PubMed ID: 26294046
[TBL] [Abstract][Full Text] [Related]
13. TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S; Ishihara N; Miya F; Tsutsumi M; Yanagihara I; Fujita N; Yamamoto H; Kato M; Okamoto N; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Kojima S; Saitoh S; Kurahashi H; Natsume J
Sci Rep; 2015 Oct; 5():15165. PubMed ID: 26493046
[TBL] [Abstract][Full Text] [Related]
14. Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Gardner JF; Cushion TD; Niotakis G; Olson HE; Grant PE; Scott RH; Stoodley N; Cohen JS; Naidu S; Attie-Bitach T; Bonnières M; Boutaud L; Encha-Razavi F; Palmer-Smith SM; Mugalaasi H; Mullins JGL; Pilz DT; Fry AE
Brain Sci; 2018 Aug; 8(8):. PubMed ID: 30087272
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Poirier K; Saillour Y; Bahi-Buisson N; Jaglin XH; Fallet-Bianco C; Nabbout R; Castelnau-Ptakhine L; Roubertie A; Attie-Bitach T; Desguerre I; Genevieve D; Barnerias C; Keren B; Lebrun N; Boddaert N; Encha-Razavi F; Chelly J
Hum Mol Genet; 2010 Nov; 19(22):4462-73. PubMed ID: 20829227
[TBL] [Abstract][Full Text] [Related]
16. Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
Tian G; Jaglin XH; Keays DA; Francis F; Chelly J; Cowan NJ
Hum Mol Genet; 2010 Sep; 19(18):3599-613. PubMed ID: 20603323
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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
Clin Genet; 2008 Nov; 74(5):425-33. PubMed ID: 18954413
[TBL] [Abstract][Full Text] [Related]
20. Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
Guerrini R; Mei D; Cordelli DM; Pucatti D; Franzoni E; Parrini E
Eur J Hum Genet; 2012 Sep; 20(9):995-8. PubMed ID: 22333901
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
