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Results: 1 to 20 of 118

1.

Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.

Wynshaw-Boris A, Pramparo T, Youn YH, Hirotsune S.

Semin Cell Dev Biol. 2010 Oct;21(8):823-30. doi: 10.1016/j.semcdb.2010.07.008. Epub 2010 Aug 3. Review.

PMID:
20688183
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.

Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S.

Eur J Hum Genet. 2009 Jul;17(7):911-8. doi: 10.1038/ejhg.2008.213. Epub 2008 Dec 3.

PMID:
19050731
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.

Delatycki MB, Leventer RJ.

Eur J Hum Genet. 2009 Jun;17(6):701-2. doi: 10.1038/ejhg.2008.230. Epub 2008 Dec 3. No abstract available.

PMID:
19050725
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction.

Pramparo T, Youn YH, Yingling J, Hirotsune S, Wynshaw-Boris A.

J Neurosci. 2010 Feb 24;30(8):3002-12. doi: 10.1523/JNEUROSCI.4851-09.2010.

PMID:
20181597
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

[Molecular mechanism of lissencephaly--how LIS1 and NDEL1 regulate cytoplasmic dynein?].

Hirotsune S.

Brain Nerve. 2008 Apr;60(4):375-81. Review. Japanese.

PMID:
18421979
[PubMed - indexed for MEDLINE]
6.

Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more.

Reiner O, Sapoznik S, Sapir T.

Neuromolecular Med. 2006;8(4):547-65. Review.

PMID:
17028375
[PubMed - indexed for MEDLINE]
7.

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.

Wynshaw-Boris A.

Clin Genet. 2007 Oct;72(4):296-304. Review.

PMID:
17850624
[PubMed - indexed for MEDLINE]
8.

A novel strategy for therapeutic intervention for the genetic disease: preventing proteolytic cleavage using small chemical compound.

Yamada M, Hirotsune S, Wynshaw-Boris A.

Int J Biochem Cell Biol. 2010 Sep;42(9):1401-7. doi: 10.1016/j.biocel.2010.05.017. Epub 2010 Jun 9.

PMID:
20541031
[PubMed - indexed for MEDLINE]
9.

Functional analyses of lissencephaly-related proteins in Dictyostelium.

Meyer I, Kuhnert O, Gräf R.

Semin Cell Dev Biol. 2011 Feb;22(1):89-96. doi: 10.1016/j.semcdb.2010.10.007. Epub 2010 Oct 27. Review.

PMID:
21034843
[PubMed - indexed for MEDLINE]
10.

[Genetic and clinical aspects of lissencephaly].

Verloes A, Elmaleh M, Gonzales M, Laquerrière A, Gressens P.

Rev Neurol (Paris). 2007 May;163(5):533-47. Review. French.

PMID:
17571022
[PubMed - indexed for MEDLINE]
11.

Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.

Pramparo T, Libiger O, Jain S, Li H, Youn YH, Hirotsune S, Schork NJ, Wynshaw-Boris A.

PLoS Genet. 2011 Mar;7(3):e1001331. doi: 10.1371/journal.pgen.1001331. Epub 2011 Mar 10.

PMID:
21423666
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.

Mokánszki A, Körhegyi I, Szabó N, Bereg E, Gergev G, Balogh E, Bessenyei B, Sümegi A, Morris-Rosendahl DJ, Sztriha L, Oláh E.

J Child Neurol. 2012 Dec;27(12):1534-40. doi: 10.1177/0883073811436326. Epub 2012 Mar 8.

PMID:
22408144
[PubMed - indexed for MEDLINE]
13.

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N.

Neurogenetics. 2008 Oct;9(4):277-85. doi: 10.1007/s10048-008-0141-5. Epub 2008 Aug 7.

PMID:
18685874
[PubMed - indexed for MEDLINE]
14.

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

Jang MA, Woo HI, Kim JW, Lee J, Ki CS.

Pediatr Neurol. 2013 May;48(5):411-4. doi: 10.1016/j.pediatrneurol.2012.12.033.

PMID:
23583063
[PubMed - indexed for MEDLINE]
15.

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.

Kerjan G, Gleeson JG.

Trends Genet. 2007 Dec;23(12):623-30. Epub 2007 Nov 8. Review.

PMID:
17997185
[PubMed - indexed for MEDLINE]
16.

Characterization of the overlapping expression patterns of the zebrafish LIS1 orthologs.

Drerup CM, Wiora HM, Morris JA.

Gene Expr Patterns. 2010 Jan;10(1):75-85. doi: 10.1016/j.gep.2009.10.001. Epub 2009 Oct 12.

PMID:
19822223
[PubMed - indexed for MEDLINE]
17.

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.

Marcorelles P, Laquerrière A, Adde-Michel C, Marret S, Saugier-Veber P, Beldjord C, Friocourt G.

Acta Neuropathol. 2010 Oct;120(4):503-15. doi: 10.1007/s00401-010-0692-z. Epub 2010 May 12.

PMID:
20461390
[PubMed - indexed for MEDLINE]
18.

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. doi: 10.1111/j.1399-0004.2008.01093.x.

PMID:
18954413
[PubMed - indexed for MEDLINE]
19.

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. doi: 10.1001/archneurol.2009.149.

PMID:
19667223
[PubMed - indexed for MEDLINE]
20.

Cytoskeleton in action: lissencephaly, a neuronal migration disorder.

Moon HM, Wynshaw-Boris A.

Wiley Interdiscip Rev Dev Biol. 2013 Mar-Apr;2(2):229-45. Review.

PMID:
23495356
[PubMed - indexed for MEDLINE]
Free PMC Article

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