检索结果 - Pau Pástor

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  1. 1
    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 由 Bruno A. Benítez, Breanna Cooper, Pau Pástor, Sheng Chih Jin, Elena Lorenzo, Sebastián Cervantes, Carlos Cruchaga

    出版 2013
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  2. 2
    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 由 Sheng Chih Jin, Pau Pástor, Breanna Cooper, Sebastián Cervantes, Bruno A. Benítez, Cristina Razquín, Alison Goate, Carlos Cruchaga

    出版 2012
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  3. 3
    Frontobasal gray matter loss is associated with the TREM2 p.R47H variant

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

    出版 2014
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  4. 4
    Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease

    Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease 由 Bruno A. Benítez, Albert A. Davis, Sheng Chih Jin, Laura Ibáñez, Sara Ortega‐Cubero, Pau Pástor, Jiyoon Choi, Breanna Cooper, Joel S. Perlmutter, Carlos Cruchaga

    出版 2016
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  5. 5
    PINK1-linked parkinsonism is associated with Lewy body pathology

    PINK1-linked parkinsonism is associated with Lewy body pathology 由 Lluı́s Samaranch, Oswaldo Lorenzo‐Betancor, José Matías Arbelo, Isidró Ferrer, Elena Lorenzo, Jaione Irigoyen, María A. Pastor, Carmen Marrero, Concepción Isla, Joanna Herrera-Henriquez, Pau Pástor

    出版 2010
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  6. 6
    Analysis of the <i>Micro‐RNA‐133</i> and <i>PITX3</i> genes in Parkinson's disease

    Analysis of the <i>Micro‐RNA‐133</i> and <i>PITX3</i> genes in Parkinson's disease 由 Lorena de Mena, Eliécer Coto, Lucía Cardo, Marta Díaz, Marta Blázquez Estrada, René Ribacoba, Carlos Salvador, Pau Pástor, Lluı́s Samaranch, Germán Morís, Manuel Menéndez‐González, Ana I. Corao, Victoria Álvarez

    出版 2010
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  7. 7
    Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer’s disease

    Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer’s disease 由 Eloy Rodríguez‐Rodríguez, Pascual Sánchez‐Juan, José Luis Vázquez‐Higuera, Ignacio Mateo, Ana Pozueta, José Berciano, Sebastián Cervantes, Daniel Alcolea, Pablo Martínez‐Lage, Jordi Clarimón, Alberto Lleó, Pau Pástor, Onofre Combarros

    出版 2012
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  8. 8
    Automated <scp>N</scp>euromelanin <scp>I</scp>maging as a <scp>D</scp>iagnostic <scp>B</scp>iomarker for <scp>P</scp>arkinson's <scp>D</scp>isease

    Automated <scp>N</scp>euromelanin <scp>I</scp>maging as a <scp>D</scp>iagnostic <scp>B</scp>iomarker for <scp>P</scp>arkinson's <scp>D</scp>isease 由 Gabriel Castellanos, María A. Fernández‐Seara, Oswaldo Lorenzo‐Betancor, Sara Ortega‐Cubero, Marc Puigvert, Javier Uranga, Marta Vidorreta, Jaione Irigoyen, Elena Lorenzo, Arrate Muñoz‐Barrutia, Carlos Ortíz-de-Solórzano, Pau Pástor, María A. Pastor

    出版 2015
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  9. 9
    An association study between Heme oxygenase-1 genetic variants and Parkinson's disease

    An association study between Heme oxygenase-1 genetic variants and Parkinson's disease 由 Pedro Ayuso, Carmen Martínez, Pau Pástor, Oswaldo Lorenzo‐Betancor, Antonio Luengo, Félix J. Jiménez-Jiménez, Hortensia Alonso‐Navarro, José A. G. AgÃondez, Elena García-Martín

    出版 2014
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  10. 10
    Replication of <i>MAPT</i> and <i>SNCA</i>, but not <i>PARK16‐18</i>, as susceptibility genes for Parkinson's disease

    Replication of <i>MAPT</i> and <i>SNCA</i>, but not <i>PARK16‐18</i>, as susceptibility genes for Parkinson's disease 由 Ignácio F. Mata, Dora Yearout, Victoria Álvarez, Eliécer Coto, Lorena de Mena, Renée Ribacoba, Oswaldo Lorenzo‐Betancor, Lluı́s Samaranch, Pau Pástor, Sebastián Cervantes, Jon Infante, Inés García‐Gorostiaga, María Sierra, Onofre Combarros, Katherine W. Snapinn, Karen L. Edwards, Cyrus P. Zabetian

    出版 2011
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  11. 11
    C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

    C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients 由 Carol Dobson‐Stone, Marianne Hallupp, Clement T. Loy, Elizabeth M. Thompson, Eric Haan, Carolyn M. Sue, Peter K. Panegyres, Cristina Razquín, Manuel Seijo‐Martínez, Ramón Reñé, Jordi Gascón, Jaume Campdelacreu, Birgit Schmoll, Alexander E. Volk, William S. Brooks, Peter R. Schofield, Pau Pástor, John B. Kwok

    出版 2013
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  12. 12
    Phosphorylated neurofilament heavy chain: A biomarker of survival for <scp><i>C9ORF</i></scp><i>72</i>‐associated amyotrophic lateral sclerosis

    Phosphorylated neurofilament heavy chain: A biomarker of survival for <scp><i>C9ORF</i></scp><i>72</i>‐associated amyotrophic lateral sclerosis 由 Tania F. Gendron, Lillian M. Daughrity, Michael G. Heckman, Nancy N. Diehl, Joanne Wuu, Timothy M. Miller, Pau Pástor, John Q. Trojanowski, Murray Grossman, James Berry, William T. Hu, Antonia Ratti, Michael Benatar, Vincenzo Silani, Jonathan Glass, Mary Kay Floeter, Andreas Jeromin, Khrista Boylan, Leonard Petrucelli

    出版 2017
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  13. 13
    HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulin

    HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulin 由 Odity Mukherjee, Pau Pástor, Nigel J. Cairns, Sumi Chakraverty, John Kauwe, Shantia Shears, María Isabel Behrens, John Budde, Anthony L. Hinrichs, Joanne Norton, Denise Levitch, Lisa Taylor‐Reinwald, Michael A. Gitcho, Pang‐Hsien Tu, Lea T. Grinberg, Rajka M. Liščić, Javier Armendariz, John C. Morris, Alison Goate

    出版 2006
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  14. 14
    Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease

    Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease 由 Eva C. Schulte, Akio Fukumori, Brit Mollenhauer, Hyun Hor, Thomas Arzberger, Robert Perneczky, Alexander Kurz, Janine Diehl‐Schmid, Michael Hüll, Peter Lichtner, Gertrud Eckstein, Alexander Zimprich, Dietrich Haubenberger, Walter Pirker, Thomas Brücke, Benjámin Bereznai, Mária Judit Molnár, Oswaldo Lorenzo‐Betancor, Pau Pástor, Annette Peters, Christian Gieger, Xavier Estivill, Thomas Meitinger, Hans A. Kretzschmar, Claudia Trenkwalder, Christian Haass, Juliane Winkelmann

    出版 2015
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  15. 15
    Comparative Analysis of Alzheimer’s Disease Cerebrospinal Fluid Biomarkers Measurement by Multiplex SOMAscan Platform and Immunoassay-Based Approach1

    Comparative Analysis of Alzheimer’s Disease Cerebrospinal Fluid Biomarkers Measurement by Multiplex SOMAscan Platform and Immunoassay-Based Approach1 由 Jigyasha Timsina, Duber Gomez‐Fonseca, Lihua Wang, Anh Do, Daniel Western, Ignacio Álvarez, Miquel Aguilar, Pau Pástor, Rachel L. Henson, Elizabeth Herries, Chengjie Xiong, Suzanne E. Schindler, Anne M. Fagan, Randall J. Bateman, Martin R. Farlow, John C. Morris, Richard J. Perrin, Krista L. Moulder, Jason Hassenstab, Jonathan Vöglein, Jasmeer P. Chhatwal, Hiroshi Mori, Yun Ju Sung, Carlos Cruchaga

    出版 2022
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  16. 16
    Missense mutations in<i>TENM4</i>, a regulator of axon guidance and central myelination, cause essential tremor

    Missense mutations in<i>TENM4</i>, a regulator of axon guidance and central myelination, cause essential tremor 由 Hyun Hor, Ludmila Francescatto, Luca Bartesaghi, Sara Ortega‐Cubero, Maria Kousi, Oswaldo Lorenzo‐Betancor, Félix Javier Jiménez‐Jiménez, Alexandre Gironell, Jordi Clarimón, Oliver Drechsel, José A. G. Agúndez, Daniela Kenzelmann Brož, Ruth Chiquet‐Ehrismann, Alberto Lleó, F. Coria, Elena García‐Martín, Hortensia Alonso‐Navarro, M. J. Martí, Jaime Kulisevsky, Charlotte N. Hor, Stephan Ossowski, Roman Chrast, Nicholas Katsanis, Pau Pástor, Xavier Estivill

    出版 2015
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  17. 17
    Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson’s disease

    Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson’s disease 由 Carlos Cruchaga, Daniel Western, Lihua Wang, Jigyasha Timsina, Yi-Chen Sun, Priyanka Gorijala, Chengran Yang, Anh Do, Niko-Petteri Nykänen, Ignacio Álvarez, Miquel Aguilar, Pau Pástor, John C. Morris, Suzanne E. Schindler, Anne M. Fagan, Raquel Puerta, Pablo García‐González, Itziar de Rojas, Marta Marquié, Merçé Boada, Agustı́n Ruiz, Joel S. Perlmutter, Laura Ibáñez, Richard J. Perrin, Yun Ju Sung, Carlos Cruchaga

    出版 2023
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  18. 18
    Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits

    Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits 由 Ciyang Wang, Chengran Yang, Daniel Western, Muhammad Ali, Yueyao Wang, Chia‐Ling Phuah, John Budde, Lihua Wang, Priyanka Gorijala, Jigyasha Timsina, Agustı́n Ruiz, Pau Pástor, María Victoria Fernández, Daniel J. Panyard, Corinne D. Engelman, Yuetiva Deming, Merçé Boada, Amanda Cano, Pablo García‐González, Neill R. Graff‐Radford, Hiroshi Mori, Jae Hong Lee, Richard J. Perrin, Laura Ibáñez, Yun Ju Sung, Carlos Cruchaga

    出版 2024
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  19. 19
    Sex Differences in Apolipoprotein E and Alzheimer Disease Pathology Across Ancestries

    Sex Differences in Apolipoprotein E and Alzheimer Disease Pathology Across Ancestries 由 Xiaoyi Xu, Jennifer M. Kwon, Ruixin Yan, Catherine Apio, Soomin C. Song, Gyujin Heo, Qijun Yang, Jigyasha Timsina, Menghan Liu, John Budde, Kaj Blennow, Henrik Zetterberg, Alberto Lleó, Agustı́n Ruiz, José Luís Molinuevo, Virginia Man-Yee Lee, Yuetiva Deming, Amanda Heslegrave, Timothy J. Hohman, Pau Pástor, Elaine R. Peskind, Marilyn S. Albert, John C. Morris, Taesung Park, Carlos Cruchaga, Yan V. Sun

    出版 2025
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  20. 20
    Multi-cohort cerebrospinal fluid proteomics identifies robust molecular signatures across the Alzheimer disease continuum

    Multi-cohort cerebrospinal fluid proteomics identifies robust molecular signatures across the Alzheimer disease continuum 由 Muhammad Ali, Jigyasha Timsina, Daniel Western, Menghan Liu, Aleksandra Beric, John Budde, Anh Do, Gyujin Heo, Lihua Wang, Jen Gentsch, Suzanne E. Schindler, John C. Morris, David M. Holtzman, Agustı́n Ruiz, Ignacio Álvarez, Miquel Aguilar, Pau Pástor, Jarod Rutledge, Hamilton Oh, Edward N. Wilson, Yann Le Guen, Rana Khalid, Chloe Robins, David Pulford, Rawan Tarawneh, Laura Ibáñez, Tony Wyss‐Coray, Yun Ju Sung, Carlos Cruchaga

    出版 2025
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