22 results for author:"Sapp P." in Literature citations
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| Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Gonzalez-Perez P., Cirulli E.T., Drory V.E., Dabby R., Nisipeanu P., Carasso R.L., Sadeh M., Fox A., Festoff B.W., Sapp P.C. et al. Neurology 79:2201-2208(2012) · Mapped (6) |
| Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Wu C.H., Fallini C., Ticozzi N., Keagle P.J., Sapp P.C., Piotrowska K., Lowe P., Koppers M., McKenna-Yasek D., Baron D.M. et al. |
| Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Ticozzi N., Vance C., Leclerc A.L., Keagle P., Glass J.D., McKenna-Yasek D., Sapp P.C., Silani V., Bosco D.A., Shaw C.E. et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 156B:285-290(2011) · Mapped (3) |
| A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Blauw H.M., Al-Chalabi A., Andersen P.M., van Vught P.W., Diekstra F.P., van Es M.A., Saris C.G., Groen E.J., van Rheenen W., Koppers M. et al. Hum. Mol. Genet. 19:4091-4099(2010) · Mapped (13) |
| Paraoxonase gene mutations in amyotrophic lateral sclerosis. Ticozzi N., LeClerc A.L., Keagle P.J., Glass J.D., Wills A.M., van Blitterswijk M., Bosco D.A., Rodriguez-Leyva I., Gellera C., Ratti A. et al. Ann. Neurol. 68:102-107(2010) · Mapped (13) |
| Mutational analysis of TARDBP in neurodegenerative diseases. Ticozzi N., LeClerc A.L., van Blitterswijk M., Keagle P., McKenna-Yasek D.M., Sapp P.C., Silani V., Wills A.M., Brown R.H. Jr., Landers J.E. Neurobiol. Aging 32:2096-2099(2011) · Mapped (5) |
| Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Landers J.E., Melki J., Meininger V., Glass J.D., van den Berg L.H., van Es M.A., Sapp P.C., van Vught P.W., McKenna-Yasek D.M., Blauw H.M. et al. Proc. Natl. Acad. Sci. U.S.A. 106:9004-9009(2009) · Mapped (89) |
| Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Kwiatkowski T.J. Jr., Bosco D.A., Leclerc A.L., Tamrazian E., Vanderburg C.R., Russ C., Davis A., Gilchrist J., Kasarskis E.J., Munsat T. et al. Science 323:1205-1208(2009) · UniProtKB (1) |
| Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Chow C.Y., Landers J.E., Bergren S.K., Sapp P.C., Grant A.E., Jones J.M., Everett L., Lenk G.M., McKenna-Yasek D.M., Weisman L.S. et al. Am. J. Hum. Genet. 84:85-88(2009) · UniProtKB (1) · Mapped (6) |
| Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Simpson C.L., Lemmens R., Miskiewicz K., Broom W.J., Hansen V.K., van Vught P.W., Landers J.E., Sapp P., Van Den Bosch L., Knight J. et al. Hum. Mol. Genet. 18:472-481(2009) · Mapped (9) |
| A common haplotype within the PON1 promoter region is associated with sporadic ALS. Landers J.E., Shi L., Cho T.J., Glass J.D., Shaw C.E., Leigh P.N., Diekstra F., Polak M., Rodriguez-Leyva I., Niemann S. et al. Amyotroph Lateral Scler 9:306-314(2008) · Mapped (3) |
| 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis. Broom W.J., Greenway M., Sadri-Vakili G., Russ C., Auwarter K.E., Glajch K.E., Dupre N., Swingler R.J., Purcell S., Hayward C. et al. Amyotroph Lateral Scler 9:229-237(2008) · Mapped (2) |
| New VAPB deletion variant and exclusion of VAPB mutations in familial ALS. Landers J.E., Leclerc A.L., Shi L., Virkud A., Cho T., Maxwell M.M., Henry A.F., Polak M., Glass J.D., Kwiatkowski T.J. et al. Neurology 70:1179-1185(2008) · Mapped (7) |
| SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia. Broom W.J., Johnson D.V., Auwarter K.E., Iafrate A.J., Russ C., Al-Chalabi A., Sapp P.C., McKenna-Yasek D., Andersen P.M., Brown R.H. Jr. Neurosci. Lett. 430:241-245(2008) · Mapped (2) |
| No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach. Shah P.R., Ahmad-Annuar A., Ahmadi K.R., Russ C., Sapp P.C., Horvitz H.R., Brown R.H. Jr., Goldstein D.B., Fisher E.M. Amyotroph Lateral Scler 7:46-56(2006) · Mapped (5) |
| Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Garcia M.L., Singleton A.B., Hernandez D., Ward C.M., Evey C., Sapp P.A., Hardy J., Brown R.H. Jr., Cleveland D.W. Neurobiol. Dis. 21:102-109(2006) · Mapped (15) |
| Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis. Li Y.J., Pericak-Vance M.A., Haines J.L., Siddique N., McKenna-Yasek D., Hung W.Y., Sapp P., Allen C.I., Chen W., Hosler B. et al. Neurogenetics 5:209-213(2004) · Mapped (5) |
| Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis. Siddique T., Pericak-Vance M.A., Caliendo J., Hong S.T., Hung W.Y., Kaplan J., McKenna-Yasek D., Rimmler J.B., Sapp P., Saunders A.M. et al. Neurogenetics 1:213-216(1998) · Mapped (5) |
| Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Hosler B.A., Nicholson G.A., Sapp P.C., Chin W., Orrell R.W., de Belleroche J.S., Esteban J., Hayward L.J., Mckenna-Yasek D., Yeung L. et al. Neuromuscul. Disord. 6:361-366(1996) · UniProtKB (1) |
| Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J.P., Deng H.-X. et al. |
| Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Esteban J., Rosen D.R., Bowling A.C., Sapp P., McKenna-Yasek D., O'Regan J.P., Beal M.F., Horvitz H.R., Brown R.H. Jr. Hum. Mol. Genet. 3:997-998(1994) · UniProtKB (1) |
| Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Sapp P.C., Rosen D.R., Hosler B.A., Esteban J., McKenna-Yasek D., O'Regan J.P., Horvitz H.R., Brown R.H. Jr. Neuromuscul. Disord. 5:353-357(1995) · UniProtKB (1) |