Kwiatkowski TJ Jr - Search Results

1

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.

Bosco DA, Lemay N, Ko HK, Zhou H, Burke C, Kwiatkowski TJ Jr, Sapp P, McKenna-Yasek D, Brown RH Jr, Hayward LJ. Bosco DA, et al. Among authors: kwiatkowski tj jr. Hum Mol Genet. 2010 Nov 1;19(21):4160-75. doi: 10.1093/hmg/ddq335. Epub 2010 Aug 10. Hum Mol Genet. 2010. PMID: 20699327 Free PMC article.

2

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.

Ticozzi N, Silani V, LeClerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE. Ticozzi N, et al. Among authors: kwiatkowski tj jr. Neurology. 2009 Oct 13;73(15):1180-5. doi: 10.1212/WNL.0b013e3181bbff05. Epub 2009 Sep 9. Neurology. 2009. PMID: 19741215 Free PMC article.

3

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.

Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ Jr, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH Jr. Landers JE, et al. Among authors: kwiatkowski tj jr. Proc Natl Acad Sci U S A. 2009 Jun 2;106(22):9004-9. doi: 10.1073/pnas.0812937106. Epub 2009 May 18. Proc Natl Acad Sci U S A. 2009. PMID: 19451621 Free PMC article.

4

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Kwiatkowski TJ Jr, et al. Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066. Science. 2009. PMID: 19251627

5

Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Banfi S, et al. Among authors: kwiatkowski tj jr. Nat Genet. 1994 Aug;7(4):513-20. doi: 10.1038/ng0894-513. Nat Genet. 1994. PMID: 7951322

6

Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.

Banfi S, Chung MY, Kwiatkowski TJ Jr, Ranum LP, McCall AE, Chinault AC, Orr HT, Zoghbi HY. Banfi S, et al. Among authors: kwiatkowski tj jr. Genomics. 1993 Dec;18(3):627-35. doi: 10.1016/s0888-7543(05)80365-9. Genomics. 1993. PMID: 8307572

7

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.

Kwiatkowski TJ Jr, Orr HT, Banfi S, McCall AE, Jodice C, Persichetti F, Novelletto A, LeBorgne-DeMarquoy F, Duvick LA, Frontali M, et al. Kwiatkowski TJ Jr, et al. Am J Hum Genet. 1993 Aug;53(2):391-400. Am J Hum Genet. 1993. PMID: 8101039 Free PMC article.

8

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Orr HT, et al. Among authors: kwiatkowski tj jr. Nat Genet. 1993 Jul;4(3):221-6. doi: 10.1038/ng0793-221. Nat Genet. 1993. PMID: 8358429

9

Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels.

Kwiatkowski TJ Jr, Beaudet AL, Trask BJ, Zoghbi HY. Kwiatkowski TJ Jr, et al. Genomics. 1991 Aug;10(4):921-6. doi: 10.1016/0888-7543(91)90180-m. Genomics. 1991. PMID: 1916824

10

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.

Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, et al. Zoghbi HY, et al. Among authors: kwiatkowski tj jr. Am J Hum Genet. 1991 Jul;49(1):23-30. Am J Hum Genet. 1991. PMID: 2063871 Free PMC article.

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