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Journal Abstract Search

248 related items for PubMed ID: 21403111

  • 1. 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 15; 76(11):988-92. PubMed ID: 21403111
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  • 3. 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 15; 45(10):647-53. PubMed ID: 18728072
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  • 5. 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 15; 21(4):381-5. PubMed ID: 22948023
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  • 6. Genetic malformations of the cerebral cortex and epilepsy.
    Guerrini R.
    Epilepsia; 2005 Apr 15; 46 Suppl 1():32-7. PubMed ID: 15816977
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  • 10. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
    Fallet-Bianco C, Loeuillet L, Poirier K, Loget P, Chapon F, Pasquier L, Saillour Y, Beldjord C, Chelly J, Francis F.
    Brain; 2008 Sep 15; 131(Pt 9):2304-20. PubMed ID: 18669490
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  • 11. 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 15; 74(5):425-33. PubMed ID: 18954413
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  • 15. Epilepsy and genetic malformations of the cerebral cortex.
    Guerrini R, Carrozzo R.
    Am J Med Genet; 2001 Nov 15; 106(2):160-73. PubMed ID: 11579436
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  • 16. Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
    Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J.
    Neurology; 2007 Jul 31; 69(5):442-7. PubMed ID: 17664403
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  • 17. TUBA1A mutation-associated lissencephaly: case report and review of the literature.
    Sohal AP, Montgomery T, Mitra D, Ramesh V.
    Pediatr Neurol; 2012 Feb 31; 46(2):127-31. PubMed ID: 22264709
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  • 20. A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.
    Stottmann RW, Donlin M, Hafner A, Bernard A, Sinclair DA, Beier DR.
    Hum Mol Genet; 2013 Oct 15; 22(20):4053-63. PubMed ID: 23727838
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