P01-NS39404/NS/NINDS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1999	1
2000	4
2001	3
2002	2
2003	4
2004	2
2010	1
2025	0

1

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Hum Mutat. 2002 Jan;19(1):4-15. doi: 10.1002/humu.10028. Hum Mutat. 2002. PMID: 11754098 Review.

2

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.

Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Leventer RJ, et al. Brain. 2010 May;133(Pt 5):1415-27. doi: 10.1093/brain/awq078. Epub 2010 Apr 19. Brain. 2010. PMID: 20403963 Free PMC article.

3

Reelin binds alpha3beta1 integrin and inhibits neuronal migration.

Dulabon L, Olson EC, Taglienti MG, Eisenhuth S, McGrath B, Walsh CA, Kreidberg JA, Anton ES. Dulabon L, et al. Neuron. 2000 Jul;27(1):33-44. doi: 10.1016/s0896-6273(00)00007-6. Neuron. 2000. PMID: 10939329 Free article.

4

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Matsumoto N, et al. Eur J Hum Genet. 2001 Jan;9(1):5-12. doi: 10.1038/sj.ejhg.5200548. Eur J Hum Genet. 2001. PMID: 11175293

5

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Kato M, et al. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. Hum Mutat. 2004. PMID: 14722918

6

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Hong SE, et al. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246. Nat Genet. 2000. PMID: 10973257

7

Doublecortin is required in mice for lamination of the hippocampus but not the neocortex.

Corbo JC, Deuel TA, Long JM, LaPorte P, Tsai E, Wynshaw-Boris A, Walsh CA. Corbo JC, et al. J Neurosci. 2002 Sep 1;22(17):7548-57. doi: 10.1523/JNEUROSCI.22-17-07548.2002. J Neurosci. 2002. PMID: 12196578 Free PMC article.

8

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Cardoso C, et al. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5. Am J Hum Genet. 2003. PMID: 12621583 Free PMC article.

9

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Ramocki MB, et al. Eur J Hum Genet. 2003 Jul;11(7):527-34. doi: 10.1038/sj.ejhg.5200995. Eur J Hum Genet. 2003. PMID: 12825074 Free article.

10

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. Leventer RJ, et al. Neurology. 2001 Aug 14;57(3):416-22. doi: 10.1212/wnl.57.3.416. Neurology. 2001. PMID: 11502906

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