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Items: 34

1.

Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.

Li Y, Xu Y, Benitez BA, Nagree MS, Dearborn JT, Jiang X, Guzman MA, Woloszynek JC, Giaramita A, Yip BK, Elsbernd J, Babcock MC, Lo M, Fowler SC, Wozniak DF, Vogler CA, Medin JA, Crawford BE, Sands MS.

Proc Natl Acad Sci U S A. 2019 Oct 1;116(40):20097-20103. doi: 10.1073/pnas.1912108116. Epub 2019 Sep 16.

PMID:
31527255
2.

The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.

Li Z, Farias FHG, Dube U, Del-Aguila JL, Mihindukulasuriya KA, Fernandez MV, Ibanez L, Budde JP, Wang F, Lake AM, Deming Y, Perez J, Yang C, Bahena JA, Qin W, Bradley JL, Davenport R, Bergmann K, Morris JC, Perrin RJ, Benitez BA, Dougherty JD, Harari O, Cruchaga C.

Acta Neuropathol. 2019 Aug 27. doi: 10.1007/s00401-019-02066-0. [Epub ahead of print]

PMID:
31456032
3.

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.

Deming Y, Filipello F, Cignarella F, Cantoni C, Hsu S, Mikesell R, Li Z, Del-Aguila JL, Dube U, Farias FG, Bradley J, Budde J, Ibanez L, Fernandez MV, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleo A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Ewers M, Harari O, Haass C, Brett TJ, Benitez BA, Karch CM, Piccio L, Cruchaga C.

Sci Transl Med. 2019 Aug 14;11(505). pii: eaau2291. doi: 10.1126/scitranslmed.aau2291.

PMID:
31413141
4.

A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain.

Del-Aguila JL, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Fernandez MV, Ibanez L, Bradley J, Wang F, Bergmann K, Davenport R, Morris JC, Holtzman DM, Perrin RJ, Benitez BA, Dougherty J, Cruchaga C, Harari O.

Alzheimers Res Ther. 2019 Aug 9;11(1):71. doi: 10.1186/s13195-019-0524-x.

5.

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.

Del-Aguila JL, Benitez BA, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Farias FHG, Fernández MV, Ibanez L, Jiang S, Perrin RJ, Cairns NJ, Morris JC, Harari O, Cruchaga C.

Mol Neurodegener. 2019 May 8;14(1):18. doi: 10.1186/s13024-019-0319-3.

6.

Triggering receptor expressed on myeloid cells 2 (TREM2): a potential therapeutic target for Alzheimer disease?

Deming Y, Li Z, Benitez BA, Cruchaga C.

Expert Opin Ther Targets. 2018 Jul;22(7):587-598. doi: 10.1080/14728222.2018.1486823. Epub 2018 Jun 20. Review.

7.

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.

Diez-Fairen M, Benitez BA, Ortega-Cubero S, Lorenzo-Betancor O, Cruchaga C, Lorenzo E, Samaranch L, Carcel M, Obeso JA, Rodriguez-Oroz MC, Aguilar M, Coria F, Pastor MA, Pastor P.

Neurobiol Aging. 2018 Oct;70:325.e1-325.e5. doi: 10.1016/j.neurobiolaging.2018.05.008. Epub 2018 May 14.

PMID:
29887346
8.

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Ibanez L, Dube U, Davis AA, Fernandez MV, Budde J, Cooper B, Diez-Fairen M, Ortega-Cubero S, Pastor P, Perlmutter JS, Cruchaga C, Benitez BA.

Front Neurosci. 2018 Apr 10;12:230. doi: 10.3389/fnins.2018.00230. eCollection 2018.

9.

Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels.

Ibanez L, Dube U, Saef B, Budde J, Black K, Medvedeva A, Del-Aguila JL, Davis AA, Perlmutter JS, Harari O, Benitez BA, Cruchaga C.

BMC Neurol. 2017 Nov 15;17(1):198. doi: 10.1186/s12883-017-0978-z.

10.

[Study of genetic variants in the BDNF, COMT, DAT1 and SERT genes in Colombian children with attention deficit disorder].

Ortega-Rojas J, Arboleda-Bustos CE, Morales L, Benítez BA, Beltrán D, Izquierdo Á, Arboleda H, Vásquez R.

Rev Colomb Psiquiatr. 2017 Oct - Dec;46(4):222-228. doi: 10.1016/j.rcp.2016.08.006. Epub 2016 Sep 30. Spanish.

PMID:
29122229
11.
12.

TMEM230 in Parkinson's disease.

Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, Perlmutter JS, Benitez BA, Cruchaga C.

Neurobiol Aging. 2017 Aug;56:212.e1-212.e3. doi: 10.1016/j.neurobiolaging.2017.03.014. Epub 2017 Mar 16.

13.

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA, Davis AA, Jin SC, Ibanez L, Ortega-Cubero S, Pastor P, Choi J, Cooper B, Perlmutter JS, Cruchaga C.

Mol Neurodegener. 2016 Apr 19;11:29. doi: 10.1186/s13024-016-0097-0.

14.

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.

Benitez BA, Cairns NJ, Schmidt RE, Morris JC, Norton JB, Cruchaga C, Sands MS.

Acta Neuropathol Commun. 2015 Nov 26;3:73. doi: 10.1186/s40478-015-0256-5.

15.

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.

Davis AA, Andruska KM, Benitez BA, Racette BA, Perlmutter JS, Cruchaga C.

Neurobiol Aging. 2016 Jan;37:209.e1-209.e7. doi: 10.1016/j.neurobiolaging.2015.09.014. Epub 2015 Sep 30.

16.

Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer's Disease.

Jin SC, Benitez BA, Deming Y, Cruchaga C.

Methods Mol Biol. 2016;1303:299-314. doi: 10.1007/978-1-4939-2627-5_18.

PMID:
26235075
17.

TREM2 is associated with increased risk for Alzheimer's disease in African Americans.

Jin SC, Carrasquillo MM, Benitez BA, Skorupa T, Carrell D, Patel D, Lincoln S, Krishnan S, Kachadoorian M, Reitz C, Mayeux R, Wingo TS, Lah JJ, Levey AI, Murrell J, Hendrie H, Foroud T, Graff-Radford NR, Goate AM, Cruchaga C, Ertekin-Taner N.

Mol Neurodegener. 2015 Apr 10;10:19. doi: 10.1186/s13024-015-0016-9.

18.

Frontobasal gray matter loss is associated with the TREM2 p.R47H variant.

Luis EO, Ortega-Cubero S, Lamet I, Razquin C, Cruchaga C, Benitez BA, Lorenzo E, Irigoyen J; Alzheimer's Disease Neuroimaging Initiative (ADNI), Pastor MA, Pastor P.

Neurobiol Aging. 2014 Dec;35(12):2681-2690. doi: 10.1016/j.neurobiolaging.2014.06.007. Epub 2014 Jun 17.

19.

Coding variants in TREM2 increase risk for Alzheimer's disease.

Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C.

Hum Mol Genet. 2014 Nov 1;23(21):5838-46. doi: 10.1093/hmg/ddu277. Epub 2014 Jun 4.

20.

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.

Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbé C, Benitez BA, Choi J, Lynch T, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Van Gerpen JA, Uitti RJ, Springer W, Cruchaga C, Wszolek ZK, Ross OA.

Neurobiol Aging. 2014 Aug;35(8):1958.e1-2. doi: 10.1016/j.neurobiolaging.2014.03.004. Epub 2014 Mar 5.

21.

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.

Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB.

JAMA Neurol. 2014 Apr;71(4):449-53. doi: 10.1001/jamaneurol.2013.6237.

22.

Missense variant in TREML2 protects against Alzheimer's disease.

Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, Bellenguez C, Brown K, Medway C, Haddick PC, van der Brug MP, Bhangale T, Ortmann W, Behrens T, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Turton J, Braae A, Barber I, Fagan AM, Holtzman DM, Morris JC; 3C Study Group; EADI consortium; Alzheimer's Disease Genetic Consortium (ADGC); Alzheimer's Disease Neuroimaging Initiative (ADNI); GERAD Consortium, Williams J, Kauwe JS, Amouyel P, Morgan K, Singleton A, Hardy J, Goate AM, Cruchaga C.

Neurobiol Aging. 2014 Jun;35(6):1510.e19-26. doi: 10.1016/j.neurobiolaging.2013.12.010. Epub 2013 Dec 21.

23.

Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.

Anasagasti A, Barandika O, Irigoyen C, Benitez BA, Cooper B, Cruchaga C, López de Munain A, Ruiz-Ederra J.

Exp Eye Res. 2013 Nov;116:386-394. doi: 10.1016/j.exer.2013.10.011.

PMID:
24416769
24.

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer's Research UK (ARUK) Consortium, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM.

Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11.

25.

TREM2 and neurodegenerative disease.

Benitez BA, Cruchaga C; United States–Spain Parkinson’s Disease Research Group.

N Engl J Med. 2013 Oct 17;369(16):1567-8. doi: 10.1056/NEJMc1306509. No abstract available.

26.

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA; Alzheimer's Disease Neuroimaging Initiative; Genetic and Environmental Risk for Alzheimer's Disease Consortium GERAD, Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C.

PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22.

27.

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.

Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R, Chakraverty S, Goate AM, Cruchaga C; NIA-LOAD/NCRAD Family Study Consortium.

JAMA Neurol. 2013 Jun;70(6):736-41. doi: 10.1001/2013.jamaneurol.537.

28.

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.

Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC; GERAD Consortium; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC), Goate AM.

Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4.

29.

TREM2 is associated with the risk of Alzheimer's disease in Spanish population.

Benitez BA, Cooper B, Pastor P, Jin SC, Lorenzo E, Cervantes S, Cruchaga C.

Neurobiol Aging. 2013 Jun;34(6):1711.e15-7. doi: 10.1016/j.neurobiolaging.2012.12.018. Epub 2013 Feb 5.

30.

Parkinson disease is not associated with C9ORF72 repeat expansions.

Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C.

Neurobiol Aging. 2013 May;34(5):1519.e1-2. doi: 10.1016/j.neurobiolaging.2012.10.001. Epub 2012 Oct 30.

31.

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A; Ibero-American Alzheimer Disease Genetics Group Researchers, Cruchaga C.

Alzheimers Res Ther. 2012 Aug 20;4(4):34. doi: 10.1186/alzrt137.

32.

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C.

PLoS One. 2011;6(11):e26741. doi: 10.1371/journal.pone.0026741. Epub 2011 Nov 4.

33.

Functional reduction of SK3-mediated currents precedes AMPA-receptor-mediated excitotoxicity in dopaminergic neurons.

Benítez BA, Belálcazar HM, Anastasía A, Mamah DT, Zorumski CF, Mascó DH, Herrera DG, de Erausquin GA.

Neuropharmacology. 2011 Jun;60(7-8):1176-86. doi: 10.1016/j.neuropharm.2010.10.024. Epub 2010 Oct 31.

34.

Exploration of genetic susceptibility factors for Parkinson's disease in a South American sample.

Benitez BA, Forero DA, Arboleda GH, Granados LA, Yunis JJ, Fernandez W, Arboleda H.

J Genet. 2010 Aug;89(2):229-32. No abstract available.

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