PubMed (cited) for id: 601545

Year	Number of Results
1986	1
1992	1
1993	3
1994	1
1995	2
1997	2
1998	3
1999	2
2000	6
2001	3
2002	1
2003	3
2004	5
2007	1
2008	3
2009	5
2010	1
2014	1
2024	0

1

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Jamuar SS, et al. N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432. N Engl J Med. 2014. PMID: 25140959 Free PMC article.

2

The L279P mutation of nuclear distribution gene C (NudC) influences its chaperone activity and lissencephaly protein 1 (LIS1) stability.

Zhu XJ, Liu X, Jin Q, Cai Y, Yang Y, Zhou T. Zhu XJ, et al. J Biol Chem. 2010 Sep 24;285(39):29903-10. doi: 10.1074/jbc.M110.105494. Epub 2010 Jul 30. J Biol Chem. 2010. PMID: 20675372 Free PMC article.

3

Seizures, enhanced excitation, and increased vesicle number in Lis1 mutant mice.

Greenwood JS, Wang Y, Estrada RC, Ackerman L, Ohara PT, Baraban SC. Greenwood JS, et al. Ann Neurol. 2009 Nov;66(5):644-53. doi: 10.1002/ana.21775. Ann Neurol. 2009. PMID: 19938147

4

Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly.

Yamada M, Yoshida Y, Mori D, Takitoh T, Kengaku M, Umeshima H, Takao K, Miyakawa T, Sato M, Sorimachi H, Wynshaw-Boris A, Hirotsune S. Yamada M, et al. Nat Med. 2009 Oct;15(10):1202-7. doi: 10.1038/nm.2023. Epub 2009 Sep 6. Nat Med. 2009. PMID: 19734909 Free PMC article.

5

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. Saillour Y, et al. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. Arch Neurol. 2009. PMID: 19667223

6

Increased LIS1 expression affects human and mouse brain development.

Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Bi W, et al. Nat Genet. 2009 Feb;41(2):168-77. doi: 10.1038/ng.302. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136950 Free PMC article.

7

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. Haverfield EV, et al. Eur J Hum Genet. 2009 Jul;17(7):911-8. doi: 10.1038/ejhg.2008.213. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050731 Free PMC article.

8

Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination.

Pawlisz AS, Mutch C, Wynshaw-Boris A, Chenn A, Walsh CA, Feng Y. Pawlisz AS, et al. Hum Mol Genet. 2008 Aug 15;17(16):2441-55. doi: 10.1093/hmg/ddn144. Epub 2008 May 10. Hum Mol Genet. 2008. PMID: 18469343 Free PMC article.

9

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R. Mei D, et al. J Med Genet. 2008 Jun;45(6):355-61. doi: 10.1136/jmg.2007.056507. Epub 2008 Feb 19. J Med Genet. 2008. PMID: 18285425

10

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. Uyanik G, et al. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403

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