Rezultati - Carlos Cruchaga

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  1. 1
    The epigenetic landscape of Alzheimer's disease

    The epigenetic landscape of Alzheimer's disease od Jenny Lord, Carlos Cruchaga

    Izdano 2014
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  2. 2
    Alzheimer’s Disease Genetics: From the Bench to the Clinic

    Alzheimer’s Disease Genetics: From the Bench to the Clinic od Celeste M. Karch, Carlos Cruchaga, Alison Goate

    Izdano 2014
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  3. 3
    Palmitoylation-induced Aggregation of Cysteine-string Protein Mutants That Cause Neuronal Ceroid Lipofuscinosis

    Palmitoylation-induced Aggregation of Cysteine-string Protein Mutants That Cause Neuronal Ceroid Lipofuscinosis od Jennifer Greaves, Kimon Lemonidis, Oforiwa A. Gorleku, Carlos Cruchaga, Christopher Grefen, Luke Chamberlain

    Izdano 2012
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  4. 4
    Expression of Novel Alzheimer’s Disease Risk Genes in Control and Alzheimer’s Disease Brains

    Expression of Novel Alzheimer’s Disease Risk Genes in Control and Alzheimer’s Disease Brains od Celeste M. Karch, Amanda T. Jeng, Petra Nowotny, Janet Cady, Carlos Cruchaga, Alison Goate

    Izdano 2012
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  5. 5
    Relationships between hourly cognitive variability and risk of Alzheimer’s disease revealed with mixed-effects location scale models.

    Relationships between hourly cognitive variability and risk of Alzheimer’s disease revealed with mixed-effects location scale models. od Andrew J. Aschenbrenner, Jason Hassenstab, John C. Morris, Carlos Cruchaga, Joshua J. Jackson

    Izdano 2023
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  6. 6
    Mendelian randomization and genetic colocalization infer the effects of the multi-tissue proteome on 211 complex disease-related phenotypes

    Mendelian randomization and genetic colocalization infer the effects of the multi-tissue proteome on 211 complex disease-related phenotypes od Chengran Yang, Anne M. Fagan, Richard J. Perrin, Hervé Rhinn, Oscar Harari, Carlos Cruchaga

    Izdano 2022
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  7. 7
    Patient stratification by genetic risk in Alzheimer’s disease is only effective in the presence of phenotypic heterogeneity

    Patient stratification by genetic risk in Alzheimer’s disease is only effective in the presence of phenotypic heterogeneity od Jack Euesden, Muhammad Ali, Chloe Robins, Praveen Surendran, Padhraig Gormley, David Pulford, Carlos Cruchaga

    Izdano 2025
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  8. 8
    Harmonization of CSF and imaging biomarkers in Alzheimer's disease: Need and practical applications for genetics studies and preclinical classification

    Harmonization of CSF and imaging biomarkers in Alzheimer's disease: Need and practical applications for genetics studies and preclinical classification od Jigyasha Timsina, Muhammad Ali, Anh Do, Lihua Wang, Daniel Western, Yun Ju Sung, Carlos Cruchaga

    Izdano 2023
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  9. 9
    Variants in GBA , SNCA , and MAPT influence Parkinson disease risk, age at onset, and progression

    Variants in GBA , SNCA , and MAPT influence Parkinson disease risk, age at onset, and progression od Albert A. Davis, Kristin M. Andruska, Bruno A. Benítez, Brad A. Racette, Joel S. Perlmutter, Carlos Cruchaga

    Izdano 2015
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  10. 10
    TREM2 is associated with the risk of Alzheimer's disease in Spanish population

    TREM2 is associated with the risk of Alzheimer's disease in Spanish population od Bruno A. Benítez, Breanna Cooper, Pau Pástor, Sheng Chih Jin, Elena Lorenzo, Sebastián Cervantes, Carlos Cruchaga

    Izdano 2013
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  11. 11
    Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity

    Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity od Meigen Yu, Hui Ye, Ruth B. De-Paula, Carl Grant Mangleburg, Timothy Wu, Tom V. Lee, Yarong Li, Duc M. Duong, Carlos Cruchaga, Carlos Cruchaga, Genevera I. Allen, Nicholas T. Seyfried, Ismael Al‐Ramahi, Juan Botas, Joshua M. Shulman

    Izdano 2023
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  12. 12
    Alzheimer's disease alters oligodendrocytic glycolytic and ketolytic gene expression

    Alzheimer's disease alters oligodendrocytic glycolytic and ketolytic gene expression od Erin R. Saito, Justin Miller, Oscar Harari, Carlos Cruchaga, Kathie A. Mihindukulasuriya, John S. K. Kauwe, Benjamin T. Bikman

    Izdano 2021
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  13. 13
    Characterizing the Role of Brain Derived Neurotrophic Factor Genetic Variation in Alzheimer’s Disease Neurodegeneration

    Characterizing the Role of Brain Derived Neurotrophic Factor Genetic Variation in Alzheimer’s Disease Neurodegeneration od Robyn A. Honea, Carlos Cruchaga, Rodrigo Perea, Andrew J. Saykin, Jeffrey M. Burns, Daniel R. Weinberger, Alison Goate

    Izdano 2013
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  14. 14
    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

    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 od Sheng Chih Jin, Pau Pástor, Breanna Cooper, Sebastián Cervantes, Bruno A. Benítez, Cristina Razquín, Alison Goate, Carlos Cruchaga

    Izdano 2012
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  15. 15
    Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms

    Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms od Daniel L. Kober, Jennifer Alexander‐Brett, Celeste M. Karch, Carlos Cruchaga, Marco Colonna, Michael J. Holtzman, Tom J. Brett

    Izdano 2016
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  16. 16
    Longitudinal brain imaging in preclinical Alzheimer disease: impact of APOE ε4 genotype

    Longitudinal brain imaging in preclinical Alzheimer disease: impact of APOE ε4 genotype od Shruti Mishra, Tyler Blazey, David M. Holtzman, Carlos Cruchaga, Yi Su, John C. Morris, Tammie L.S. Benzinger, Brian A. Gordon

    Izdano 2018
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  17. 17
    Cell specific peripheral immune responses predict survival in critical COVID-19 patients

    Cell specific peripheral immune responses predict survival in critical COVID-19 patients od Junedh M. Amrute, Alexandra Perry, Gautam Anand, Carlos Cruchaga, Karl Hock, Christopher W Farnsworth, Gwendalyn J. Randolph, Kory J. Lavine, Ashley L. Steed

    Izdano 2022
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  18. 18
    Pathogenic cysteine mutations affect progranulin function and production of mature granulins

    Pathogenic cysteine mutations affect progranulin function and production of mature granulins od Jun Wang, Philip Van Damme, Carlos Cruchaga, Michael A. Gitcho, José Vidal, Manuel Seijo‐Martínez, Lei Wang, Jane Y. Wu, Wim Robberecht, Alison Goate

    Izdano 2009
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  19. 19
    Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

    Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis od Bruno A. Benítez, David M. Alvarado, Yefei Cai, Kevin H. Mayo, Sumitra Chakraverty, Joanne Norton, John C. Morris, Mark S. Sands, Alison Goate, Carlos Cruchaga

    Izdano 2011
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  20. 20
    Frontobasal gray matter loss is associated with the TREM2 p.R47H variant

    Frontobasal gray matter loss is associated with the TREM2 p.R47H variant od Elkin O. Luís, Sara Ortega‐Cubero, Isabel Lamet, Cristina Razquín, Carlos Cruchaga, Bruno A. Benítez, Elena Lorenzo, Jaione Irigoyen, María A. Pastor, Pau Pástor

    Izdano 2014
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