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Journal Abstract Search

241 related items for PubMed ID: 20376468

  • 21. Cytoskeleton in action: lissencephaly, a neuronal migration disorder.
    Moon HM, Wynshaw-Boris A.
    Wiley Interdiscip Rev Dev Biol; 2013; 2(2):229-45. PubMed ID: 23495356
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  • 22. Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects.
    Jaglin XH, Chelly J.
    Trends Genet; 2009 Dec; 25(12):555-66. PubMed ID: 19864038
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  • 23. CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.
    Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T.
    Genomics; 2015 Oct; 106(4):196-203. PubMed ID: 26188257
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  • 24. 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, LIS-Tubulinopathies Consortium, Beldjord C, Chelly J.
    Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
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  • 25. [Molecular genetics of lissencephaly and microcephaly].
    Mochida GH.
    Brain Nerve; 2008 Apr; 60(4):437-44. PubMed ID: 18421985
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  • 26. [Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
    Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, Chelly J.
    Rev Neurol (Paris); 2008 Dec; 164(12):995-1009. PubMed ID: 18808783
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  • 27. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.
    Wynshaw-Boris A.
    Clin Genet; 2007 Oct; 72(4):296-304. PubMed ID: 17850624
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  • 32. LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
    Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N.
    Arch Neurol; 2009 Aug; 66(8):1007-15. PubMed ID: 19667223
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  • 33. Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation.
    Grosso S, Fichera M, Galesi O, Luciano D, Pucci L, Giardini F, Berardi R, Balestri P.
    Dev Med Child Neurol; 2008 Jun; 50(6):473-6. PubMed ID: 18384621
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  • 34. A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.
    Tian G, Kong XP, Jaglin XH, Chelly J, Keays D, Cowan NJ.
    Mol Biol Cell; 2008 Mar; 19(3):1152-61. PubMed ID: 18199681
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  • 35. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
    Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K.
    Nat Genet; 2002 Nov; 32(3):359-69. PubMed ID: 12379852
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