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Literature citations Results

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.

Nuytemans K., Bademci G., Inchausti V., Dressen A., Kinnamon D.D., Mehta A., Wang L., Zuchner S., Beecham G.W., Martin E.R. et al.

Neurology 80:982-989(2013) · Mapped (11)

Vitamin D receptor gene as a candidate gene for Parkinson disease.

Butler M.W., Burt A., Edwards T.L., Zuchner S., Scott W.K., Martin E.R., Vance J.M., Wang L.

Ann. Hum. Genet. 75:201-210(2011) · Mapped (12)

Vitamin D receptor and Alzheimer's disease: a genetic and functional study.

Wang L., Hara K., Van Baaren J.M., Price J.C., Beecham G.W., Gallins P.J., Whitehead P.L., Wang G., Lu C., Slifer M.A. et al.

Neurobiol. Aging 33:1844.e1-9(2012) · Mapped (12)

VEGFA and VEGFR2 gene polymorphisms and response to anti-vascular endothelial growth factor therapy: comparison of age-related macular degeneration treatments trials (CATT).

Hagstrom S.A., Ying G.S., Pauer G.J., Sturgill-Short G.M., Huang J., Maguire M.G., Martin D.F., Williams D.F., Beardsley S., Bennett S. et al.

JAMA Ophthalmol 132:521-527(2014) · Mapped (24)

Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

Wang G., van der Walt J.M., Mayhew G., Li Y.J., Zuchner S., Scott W.K., Martin E.R., Vance J.M.

Am. J. Hum. Genet. 82:283-289(2008) · UniProtKB (1) · Mapped (1)

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.

Alzheimer Disease Genetics Consortium
Reitz C., Jun G., Naj A., Rajbhandary R., Vardarajan B.N., Wang L.S., Valladares O., Lin C.F., Larson E.B., Graff-Radford N.R. et al.

JAMA 309:1483-1492(2013) · Mapped (12)

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Kozol R.A., Cukier H.N., Zou B., Mayo V., De Rubeis S., Cai G., Griswold A.J., Whitehead P.L., Haines J.L., Gilbert J.R. et al.

Hum. Mol. Genet. 24:4006-4023(2015) · Mapped (17)

Transethnic genome-wide scan identifies novel Alzheimer's disease loci.

Alzheimer's Disease Genetics Consortium
Jun G.R., Chung J., Mez J., Barber R., Beecham G.W., Bennett D.A., Buxbaum J.D., Byrd G.S., Carrasquillo M.M., Crane P.K. et al.

Alzheimers Dement 13:727-738(2017) · Mapped (28)

Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy.

de Silva R., Weiler M., Morris H.R., Martin E.R., Wood N.W., Lees A.J.

Neurosci. Lett. 311:145-148(2001) · Mapped (11)

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.

Kohli M.A., Cukier H.N., Hamilton-Nelson K.L., Rolati S., Kunkle B.W., Whitehead P.L., Zuchner S.L., Farrer L.A., Martin E.R., Beecham G.W. et al.

Neurol Genet 2:e41-e41(2016) · Mapped (1)

Resolving the relationship between ApolipoproteinE and depression.

Slifer M.A., Martin E.R., Gilbert J.R., Haines J.L., Pericak-Vance M.A.

Neurosci. Lett. 455:116-119(2009) · Mapped (12)

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.

Kohli M.A., John-Williams K., Rajbhandary R., Naj A., Whitehead P., Hamilton K., Carney R.M., Wright C., Crocco E., Gwirtzman H.E. et al.

Neurobiol. Aging 34:1519.e5-12(2013) · Mapped (2)

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

Alzheimer's Disease Genetics Consortium
Wang L.S., Naj A.C., Graham R.R., Crane P.K., Kunkle B.W., Cruchaga C., Murcia J.D., Cannon-Albright L., Baldwin C.T., Zetterberg H. et al.

JAMA Neurol 72:209-216(2015) · Mapped (15)

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

ARUK Consortium
Sims R., van der Lee S.J., Naj A.C., Bellenguez C., Badarinarayan N., Jakobsdottir J., Kunkle B.W., Boland A., Raybould R., Bis J.C. et al.

Nat. Genet. 49:1373-1384(2017) · Mapped (7)

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

Oliveira S.A., Scott W.K., Martin E.R., Nance M.A., Watts R.L., Hubble J.P., Koller W.C., Pahwa R., Stern M.B., Hiner B.C. et al.

Ann. Neurol. 53:624-629(2003) · UniProtKB (1)

No association between the APOE gene and autism.

Raiford K.L., Shao Y., Allen I.C., Martin E.R., Menold M.M., Wright H.H., Abramson R.K., Worley G., DeLong G.R., Vance J.M. et al.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 125B:57-60(2004) · Mapped (12)

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

PD GWAS Consortium
Pankratz N., Beecham G.W., DeStefano A.L., Dawson T.M., Doheny K.F., Factor S.A., Hamza T.H., Hung A.Y., Hyman B.T., Ivinson A.J. et al.

Ann. Neurol. 71:370-384(2012) · Mapped (1)

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.

Alzheimer's Disease Genetics Consortium
Jun G., Naj A.C., Beecham G.W., Wang L.S., Buros J., Gallins P.J., Buxbaum J.D., Ertekin-Taner N., Fallin M.D., Friedland R. et al.

Arch. Neurol. 67:1473-1484(2010) · Mapped (58)

Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype.

Oliveira S.A., Scott W.K., Zhang F., Stajich J.M., Fujiwara K., Hauser M., Scott B.L., Pericak-Vance M.A., Vance J.M., Martin E.R.

Neurogenetics 5:147-155(2004) · Mapped (11)

Lack of association between UBQLN1 and Alzheimer disease.

Slifer M.A., Martin E.R., Bronson P.G., Browning-Large C., Doraiswamy P.M., Welsh-Bohmer K.A., Gilbert J.R., Haines J.L., Pericak-Vance M.A.

Am. J. Med. Genet. B Neuropsychiatr. Genet. 141B:208-213(2006) · Mapped (5)

Lack of association between autism and SLC25A12.

Rabionet R., McCauley J.L., Jaworski J.M., Ashley-Koch A.E., Martin E.R., Sutcliffe J.S., Haines J.L., DeLong G.R., Abramson R.K., Wright H.H. et al.

Am J Psychiatry 163:929-931(2006) · Mapped (3)

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.

Ashley-Koch A.E., Jaworski J., Ma D.Q., Mei H., Ritchie M.D., Skaar D.A., Robert Delong G., Worley G., Abramson R.K., Wright H.H. et al.

Psychiatr. Genet. 17:221-226(2007) · Mapped (18)

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.

Collins A.L., Ma D., Whitehead P.L., Martin E.R., Wright H.H., Abramson R.K., Hussman J.P., Haines J.L., Cuccaro M.L., Gilbert J.R. et al.

Neurogenetics 7:167-174(2006) · Mapped (7)

Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease.

Martin E.R., Bronson P.G., Li Y.J., Wall N., Chung R.H., Schmechel D.E., Small G., Xu P.T., Bartlett J., Schnetz-Boutaud N. et al.

J. Med. Genet. 42:787-792(2005) · Mapped (17)

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Ma D.Q., Whitehead P.L., Menold M.M., Martin E.R., Ashley-Koch A.E., Mei H., Ritchie M.D., Delong G.R., Abramson R.K., Wright H.H. et al.

Am. J. Hum. Genet. 77:377-388(2005) · Mapped (24)

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