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102
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for author:"Gusella J.F."
in Literature Citations
| NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. James M.F., Han S., Polizzano C., Plotkin S.R., Manning B.D., Stemmer-Rachamimov A.O., Gusella J.F., Ramesh V. Mol. Cell. Biol. 29:4250-4261(2009) · Mapped (17) |
| The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. Latourelle J.C., Sun M., Lew M.F., Suchowersky O., Klein C., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F., Watts R.L. et al. BMC Med 6:32-32(2008) · Mapped (4) |
| Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Pankratz N., Wilk J.B., Latourelle J.C., DeStefano A.L., Halter C., Pugh E.W., Doheny K.F., Gusella J.F., Nichols W.C., Foroud T. et al. Hum. Genet. 124:593-605(2009) · Mapped (5) |
| Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Kim H.-G., Kurth I., Lan F., Meliciani I., Wenzel W., Eom S.H., Kang G.B., Rosenberger G., Tekin M., Ozata M. et al. Am. J. Hum. Genet. 83:511-519(2008) · UniProtKB (1) · Mapped (2) |
| Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. McNicoll C.F., Latourelle J.C., MacDonald M.E., Lew M.F., Suchowersky O., Klein C., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F. et al. Mov. Disord. 23:1596-1601(2008) · Mapped (3) |
| Replication of association between ELAVL4 and Parkinson disease: the GenePD study. DeStefano A.L., Latourelle J., Lew M.F., Suchowersky O., Klein C., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F., Watts R. et al. Hum. Genet. 124:95-99(2008) · Mapped (6) |
| Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Tobin J.E., Latourelle J.C., Lew M.F., Klein C., Suchowersky O., Shill H.A., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F. et al. Neurology 71:28-34(2008) · Mapped (8) |
| X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A., Scheffer I.E., Smith R., Bomar J., Sutton E., Vandeleur L., Shoubridge C. et al. |
| Disruption of neurexin 1 associated with autism spectrum disorder. Kim H.G., Kishikawa S., Higgins A.W., Seong I.S., Donovan D.J., Shen Y., Lally E., Weiss L.A., Najm J., Kutsche K. et al. Am. J. Hum. Genet. 82:199-207(2008) · UniProtKB (1) · Mapped (8) |
| Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. Abo-Dalo B., Kim H.G., Roes M., Stefanova M., Higgins A., Shen Y., Mundlos S., Quade B.J., Gusella J.F., Kutsche K. Am. J. Med. Genet. A 143A:2668-2674(2007) · Mapped (6) |
| Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiation. Beyer K.S., Beauchamp R.L., Lee M.F., Gusella J.F., Naar A.M., Ramesh V. J. Biol. Chem. 282:32152-32157(2007) · Mapped (1) |
| Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. Lee J.M., Ivanova E.V., Seong I.S., Cashorali T., Kohane I., Gusella J.F., MacDonald M.E. PLoS Genet. 3:e135-e135(2007) · Mapped (4) |
| Factors associated with HD CAG repeat instability in Huntington disease. Wheeler V.C., Persichetti F., McNeil S.M., Mysore J.S., Mysore S.S., MacDonald M.E., Myers R.H., Gusella J.F., Wexler N.S. J. Med. Genet. 44:695-701(2007) · Mapped (3) |
| A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Hims M.M., Shetty R.S., Pickel J., Mull J., Leyne M., Liu L., Gusella J.F., Slaugenhaupt S.A. Genomics 90:389-396(2007) · Mapped (11) |
| Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Quintero-Rivera F., Leach N.T., de la Chapelle A., Gusella J.F., Morton C.C., Harris D.J. Am. J. Med. Genet. A 143A:1796-1798(2007) · Mapped (9) |
| NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. Lu W., Quintero-Rivera F., Fan Y., Alkuraya F.S., Donovan D.J., Xi Q., Turbe-Doan A., Li Q.G., Campbell C.G., Shanske A.L. et al. PLoS Genet. 3:e80-e80(2007) · Mapped (22) |
| Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Leach N.T., Sun Y., Michaud S., Zheng Y., Ligon K.L., Ligon A.H., Sander T., Korf B.R., Lu W., Harris D.J. et al. Am. J. Hum. Genet. 80:792-799(2007) · Mapped (6) |
| Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Lu W., van Eerde A.M., Fan X., Quintero-Rivera F., Kulkarni S., Ferguson H., Kim H.-G., Fan Y., Xi Q., Li Q.-G. et al. Am. J. Hum. Genet. 80:616-632(2007) · UniProtKB (2) · Mapped (18) |
| Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. Quintero-Rivera F., Chan A., Donovan D.J., Gusella J.F., Ligon A.H. Am. J. Med. Genet. A 143:558-563(2007) · Mapped (4) |
| Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. Hims M.M., Ibrahim E.C., Leyne M., Mull J., Liu L., Lazaro C., Shetty R.S., Gill S., Gusella J.F., Reed R. et al. J. Mol. Med. 85:149-161(2007) · Mapped (9) |
| Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Wilk J.B., Tobin J.E., Suchowersky O., Shill H.A., Klein C., Wooten G.F., Lew M.F., Mark M.H., Guttman M., Watts R.L. et al. Neurology 67:2206-2210(2006) · Mapped (3) |
| Genetic analysis of the GRIK2 modifier effect in Huntington's disease. Zeng W., Gillis T., Hakky M., Djousse L., Myers R.H., MacDonald M.E., Gusella J.F. BMC Neurosci 7:62-62(2006) · Mapped (8) |
| Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation. Lee M.F., Beauchamp R.L., Beyer K.S., Gusella J.F., Ramesh V. Biochem. Biophys. Res. Commun. 348:826-831(2006) · Mapped (1) |
| Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Sun M., Latourelle J.C., Wooten G.F., Lew M.F., Klein C., Shill H.A., Golbe L.I., Mark M.H., Racette B.A., Perlmutter J.S. et al. Arch. Neurol. 63:826-832(2006) · Mapped (14) |
| BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Karamohamed S., Latourelle J.C., Racette B.A., Perlmutter J.S., Wooten G.F., Lew M., Klein C., Shill H., Golbe L.I., Mark M.H. et al. Neurology 65:1823-1825(2005) · Mapped (6) |
