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Cruchaga, Carlos
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Journal Article
Fernández MVictoria
,
Kim JHun
,
Budde JP
,
Black K
,
Medvedeva A
,
Saef B
,
Deming Y
,
Del-Aguila J
,
Ibañez L
,
Dube U
et al.
. 2017.
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
.
PLoS Genet. 13(11):e1007045.
PubMed
Davis AA
,
Inman CE
,
Wargel ZM
,
Dube U
,
Freeberg BM
,
Galluppi A
,
Haines JN
,
Dhavale DD
,
Miller R
,
Choudhury FA
et al.
. 2020.
APOE genotype regulates pathology and disease progression in synucleinopathy.
.
Sci Transl Med. 12(529)
PubMed
Dube U
,
Del-Aguila JL
,
Li Z
,
Budde JP
,
Jiang S
,
Hsu S
,
Ibañez L
,
Fernández MVictoria
,
Farias F
,
Norton J
et al.
. 2019.
An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations.
.
Nat Neurosci. 22(11):1903-1912.
PubMed
Castillo-Barnes D
,
Su L
,
Ramírez J
,
Salas-Gonzalez D
,
Martinez-Murcia FJ
,
Illan IA
,
Segovia F
,
Ortiz A
,
Cruchaga C
,
Farlow MR
et al.
. 2020.
Autosomal Dominantly Inherited Alzheimer Disease: Analysis of genetic subgroups by Machine Learning.
.
Inf Fusion. 58:153-167.
PubMed
Fernández MV
,
Budde J
,
Del-Aguila JL
,
Ibañez L
,
Deming Y
,
Harari O
,
Norton J
,
Morris JC
,
Goate AM
,
Cruchaga C
. 2018.
Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.
.
Front Neurosci. 12:209.
PubMed
Olive C
,
Ibañez L
,
Farias FHGeraldo
,
Wang F
,
Budde JP
,
Norton JB
,
Gentsch J
,
Morris JC
,
Li Z
,
Dube U
et al.
. 2020.
Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.
.
J Alzheimers Dis. 77(4):1469-1482.
PubMed
Ibañez L
,
Bahena JA
,
Yang C
,
Dube U
,
Farias FHG
,
Budde JP
,
Bergmann K
,
Brenner-Webster C
,
Morris JC
,
Perrin RJ
et al.
. 2020.
Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease.
.
Acta Neuropathol Commun. 8(1):196.
PubMed
Baker E
,
Sims R
,
Leonenko G
,
Frizzati A
,
Harwood JC
,
Grozeva D
,
Morgan K
,
Passmore P
,
Holmes C
,
Powell J
et al.
. 2019.
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.
.
PLoS One. 14(7):e0218111.
PubMed
Kunkle BW
,
Grenier-Boley B
,
Sims R
,
Bis JC
,
Damotte V
,
Naj AC
,
Boland A
,
Vronskaya M
,
van der Lee SJ
,
Amlie-Wolf A
et al.
. 2019.
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
.
Nat Genet. 51(3):414-430.
PubMed
Dumitrescu L
,
Mahoney ER
,
Mukherjee S
,
Lee ML
,
Bush WS
,
Engelman CD
,
Lu Q
,
Fardo DW
,
Trittschuh EH
,
Mez J
et al.
. 2020.
Genetic variants and functional pathways associated with resilience to Alzheimer's disease.
.
Brain. 143(8):2561-2575.
PubMed
Blue EE
,
Bis JC
,
Dorschner MO
,
Tsuang DW
,
Barral SM
,
Beecham G
,
Below JE
,
Bush WS
,
Butkiewicz M
,
Cruchaga C
et al.
. 2018.
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.
.
Dement Geriatr Cogn Disord. 45(1-2):1-17.
PubMed
Yan Q
,
Nho K
,
Del-Aguila JL
,
Wang X
,
Risacher SL
,
Fan K-H
,
Snitz BE
,
Aizenstein HJ
,
Mathis CA
,
Lopez OL
et al.
. 2021.
Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.
.
Mol Psychiatry. 26(1):309-321.
PubMed
Sherva R
,
Gross A
,
Mukherjee S
,
Koesterer R
,
Amouyel P
,
Bellenguez C
,
Dufouil C
,
Bennett DA
,
Chibnik L
,
Cruchaga C
et al.
. 2020.
Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways.
.
Alzheimers Dement. 16(8):1134-1145.
PubMed
Ewers M
,
Biechele G
,
Suárez-Calvet M
,
Sacher C
,
Blume T
,
Morenas-Rodriguez E
,
Deming Y
,
Piccio L
,
Cruchaga C
,
Kleinberger G
et al.
. 2020.
Higher CSF sTREM2 and microglia activation are associated with slower rates of beta-amyloid accumulation.
.
EMBO Mol Med. 12(9):e12308.
PubMed
Jiang S
,
Wen N
,
Li Z
,
Dube U
,
Del Aguila J
,
Budde J
,
Martinez R
,
Hsu S
,
Fernández MV
,
Cairns NJ
et al.
. 2018.
Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.
.
Transl Psychiatry. 8(1):265.
PubMed
Kirola L
,
Budde JP
,
Wang F
,
Norton J
,
Morris JC
,
Cruchaga C
,
Fernández MVictoria
. 2021.
Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.
.
Acta Neuropathol. 141(4):623-624.
PubMed
Moreno-Grau S
,
Fernández MVictoria
,
de Rojas I
,
García-González P
,
Hernández I
,
Farias F
,
Budde JP
,
Quintela I
,
Madrid L
,
González-Perez A
et al.
. 2021.
Long runs of homozygosity are associated with Alzheimer's disease.
.
Transl Psychiatry. 11(1):142.
PubMed
Damotte V
,
van der Lee SJ
,
Chouraki V
,
Grenier-Boley B
,
Simino J
,
Adams H
,
Tosto G
,
White C
,
Terzikhan N
,
Cruchaga C
et al.
. 2021.
Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants.
.
Alzheimers Dement. 17(10):1663-1674.
PubMed
Dumitrescu L
,
Barnes LL
,
Thambisetty M
,
Beecham G
,
Kunkle B
,
Bush WS
,
Gifford KA
,
Chibnik LB
,
Mukherjee S
,
De Jager PL
et al.
. 2019.
Sex differences in the genetic predictors of Alzheimer's pathology.
.
Brain. 142(9):2581-2589.
PubMed
Deming Y
,
Dumitrescu L
,
Barnes LL
,
Thambisetty M
,
Kunkle B
,
Gifford KA
,
Bush WS
,
Chibnik LB
,
Mukherjee S
,
De Jager PL
et al.
. 2018.
Sex-specific genetic predictors of Alzheimer's disease biomarkers.
.
Acta Neuropathol. 136(6):857-872.
PubMed
Del-Aguila JL
,
Li Z
,
Dube U
,
Mihindukulasuriya KA
,
Budde JP
,
Fernández MVictoria
,
Ibañez L
,
Bradley J
,
Wang F
,
Bergmann K
et al.
. 2019.
A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain.
.
Alzheimers Res Ther. 11(1):71.
PubMed
Li Z
,
Farias FHG
,
Dube U
,
Del-Aguila JL
,
Mihindukulasuriya KA
,
Fernández MVictoria
,
Ibañez L
,
Budde JP
,
Wang F
,
Lake AM
et al.
. 2020.
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.
.
Acta Neuropathol. 139(1):45-61.
PubMed
Cignarella F
,
Filipello F
,
Bollman B
,
Cantoni C
,
Locca A
,
Mikesell R
,
Manis M
,
Ibrahim A
,
Deng L
,
Benitez BA
et al.
. 2020.
TREM2 activation on microglia promotes myelin debris clearance and remyelination in a model of multiple sclerosis.
.
Acta Neuropathol. 140(4):513-534.
PubMed
Bis JC
,
Jian X
,
Kunkle BW
,
Chen Y
,
Hamilton-Nelson KL
,
Bush WS
,
Salerno WJ
,
Lancour D
,
Ma Y
,
Renton AE
et al.
. 2018.
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
.
Mol Psychiatry.
PubMed
Lananna BV
,
McKee CA
,
King MW
,
Del-Aguila JL
,
Dimitry JM
,
Farias FHG
,
Nadarajah CJ
,
Xiong DD
,
Guo C
,
Cammack AJ
et al.
. 2020.
/YKL-40 is controlled by the astrocyte circadian clock and regulates neuroinflammation and Alzheimer's disease pathogenesis.
.
Sci Transl Med. 12(574)
PubMed
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