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Items: 15

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.

Hum Mol Genet. 2010 Nov 1;19(21):4160-75. doi: 10.1093/hmg/ddq335. Epub 2010 Aug 10.

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.

Neurology. 2009 Oct 13;73(15):1180-5. doi: 10.1212/WNL.0b013e3181bbff05. Epub 2009 Sep 9.

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.

Proc Natl Acad Sci U S A. 2009 Jun 2;106(22):9004-9. doi: 10.1073/pnas.0812937106. Epub 2009 May 18.

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.

Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.

5.

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.

Landers JE, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, Henry AF, Polak M, Glass JD, Kwiatkowski TJ, Al-Chalabi A, Shaw CE, Leigh PN, Rodriguez-Leyza I, McKenna-Yasek D, Sapp PC, Brown RH Jr.

Neurology. 2008 Apr 1;70(14):1179-85. doi: 10.1212/01.wnl.0000289760.85237.4e. Epub 2008 Mar 5.

PMID:
18322265
6.

Management of orbital-sinus foreign bodies.

Kwiatkowski TJ, Magardino TM, Austin M.

J Craniomaxillofac Trauma. 1998 Fall;4(3):24-9.

PMID:
11951423
7.

Effects of external beam radiation on the allograft dermal implant.

Ibrahim HZ, Kwiatkowski TJ, Montone KT, Evans SM, Rosenthal D, Chalian AA, Staley J, Berlin J, Wolf PF, Weber RS.

Otolaryngol Head Neck Surg. 2000 Feb;122(2):189-94.

PMID:
10652388
8.

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.

Nat Genet. 1994 Aug;7(4):513-20.

PMID:
7951322
9.

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.

Genomics. 1993 Dec;18(3):627-35.

PMID:
8307572
10.

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.

Am J Hum Genet. 1993 Aug;53(2):391-400.

11.

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.

Nat Genet. 1993 Jul;4(3):221-6.

PMID:
8358429
12.
13.

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.

Am J Hum Genet. 1991 Jul;49(1):23-30.

14.

Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR.

Kwiatkowski TJ Jr, Zoghbi HY, Ledbetter SA, Ellison KA, Chinault AC.

Nucleic Acids Res. 1990 Dec 11;18(23):7191-2. No abstract available.

15.

Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6.

Zoghbi HY, Ballantyne CM, O'Brien WE, McCall AE, Kwiatkowski TJ Jr, Ledbetter SA, Beaudet AL.

Genomics. 1990 Feb;6(2):352-7.

PMID:
1968423

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