Search Results - J. Nicholas Cochran

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  1. 1
    The dendritic hypothesis for Alzheimer's disease pathophysiology

    The dendritic hypothesis for Alzheimer's disease pathophysiology by J. Nicholas Cochran, Alicia M. Hall, Erik D. Roberson

    Published 2013
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  2. 2
    The Alzheimer's disease risk factor CD2AP maintains blood–brain barrier integrity

    The Alzheimer's disease risk factor CD2AP maintains blood–brain barrier integrity by J. Nicholas Cochran, Travis Rush, Susan Buckingham, Erik D. Roberson

    Published 2015
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  3. 3
    Amyloid-β signals through tau to drive ectopic neuronal cell cycle re-entry in Alzheimer's disease

    Amyloid-β signals through tau to drive ectopic neuronal cell cycle re-entry in Alzheimer's disease by Matthew E. Seward, Eric A. Swanson, Andrés Norambuena, Anja Reimann, J. Nicholas Cochran, Rong Li, Erik D. Roberson, George S. Bloom

    Published 2013
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  4. 4
    Alzheimer’s disease risk gene BIN1 induces Tau-dependent network hyperexcitability

    Alzheimer’s disease risk gene BIN1 induces Tau-dependent network hyperexcitability by Yuliya Voskobiynyk, Jonathan R. Roth, J. Nicholas Cochran, Travis Rush, Nancy V. N. Carullo, Jacob S Mesina, Mohammad Waqas, R. Vollmer, Jeremy J. Day, Lori L. McMahon, Erik D. Roberson

    Published 2020
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  5. 5
    Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer’s disease-specific cis-regulatory elements

    Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer’s disease-specific cis-regulatory elements by Ashlyn G. Anderson, Brianne B. Rogers, Jacob M. Loupe, Iván Rodríguez-Nunez, Sydney C. Roberts, Lauren M. White, J. Nicholas Brazell, William E. Bunney, Blynn G. Bunney, Stanley J. Watson, J. Nicholas Cochran, R Myers, Lindsay F. Rizzardi

    Published 2023
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  6. 6
    Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases

    Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases by J. Nicholas Cochran, Ethan G. Geier, Luke W. Bonham, J. Scott Newberry, Michelle D. Amaral, Michelle L. Thompson, Brittany N. Lasseigne, Anna M. Karydas, Erik D. Roberson, Gregory M. Cooper, Gil D. Rabinovici, Bruce L. Miller, R Myers, Jennifer S. Yokoyama

    Published 2020
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  7. 7
    Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements

    Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements by Brianne B. Rogers, Ashlyn G. Anderson, Shelby N. Lauzon, M. Natalie Davis, Rebecca M. Hauser, Sydney C. Roberts, Iván Rodríguez-Nunez, Katie Trausch‐Lowther, Erin A. Barinaga, Paige I. Hall, Matthew T. Knuesel, Jared W. Taylor, Mark Mackiewicz, Brian S. Roberts, Sara J. Cooper, Lindsay F. Rizzardi, R Myers, J. Nicholas Cochran

    Published 2024
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  8. 8
    Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy

    Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy by Allison M. Bradbury, J. Nicholas Cochran, Victoria J. McCurdy, Aime K. Johnson, Brandon L. Brunson, Heather L. Gray‐Edwards, Stanley G. LeRoy, Misako Hwang, Ashley N. Randle, Laura S Jackson, Nancy E. Morrison, Rena Baek, Thomas N. Seyfried, Seng H. Cheng, Nancy R. Cox, Henry J. Baker, María Begoña Cachón-González, Timothy M. Cox, Miguel Sena‐Esteves, Douglas R. Martin

    Published 2013
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  9. 9
    Systematic reanalysis of genomic data improves quality of variant interpretation

    Systematic reanalysis of genomic data improves quality of variant interpretation by Susan M. Hiatt, Michelle D. Amaral, Kevin M. Bowling, Candice R. Finnila, Michelle L. Thompson, Stacy W. Gray, James M.J. Lawlor, J. Nicholas Cochran, E. Martina Bebin, Kyle B. Brothers, Kelly M. East, Whitley V. Kelley, Neil E. Lamb, Shawn Levy, Edward J. Lose, Matthew B. Neu, Carla A. Rich, Shirley Simmons, R Myers, Gregory S. Barsh, Gregory M. Cooper

    Published 2018
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  10. 10
    Genomic diagnosis for children with intellectual disability and/or developmental delay

    Genomic diagnosis for children with intellectual disability and/or developmental delay by Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, Stacy W. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana Whittle, Benjamin T. Weaver, Amy S. Nesmith, R Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper

    Published 2017
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  11. 11
    A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects

    A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects by Juliana Acosta‐Uribe, David Aguillón, J. Nicholas Cochran, Margarita Giraldo, Lucía Madrigal, Bradley W. Killingsworth, Rijul Singhal, Sarah Labib, Diana Alzate, Lina Velilla, Sonia Moreno, Gloria P. García, Amanda Saldarriaga, Francisco Piedrahita, Liliana Hincapié, Hugo E. López, Nithesh Perumal, Leonilde Morelo, Dionis Vallejo, Juan Marcos Solano, Eric M. Reiman, Ezequiel Surace, Tatiana Itzcovich, Ricardo Allegri, Raquel Sánchez‐Valle, Andrés Villegas‐Lanau, Charles L. White, Diana Matallana, R Myers, Sharon R. Browning, Francisco Lopera, Kenneth S. Kosik

    Published 2022
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  12. 12
    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder by Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper

    Published 2018
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  13. 13
    The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science

    The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science by Agustín Ibáñez, Jennifer S. Yokoyama, Katherine L. Possin, Diana Matallana, Francisco Lopera, Ricardo Nitríni, Leonel Tadao Takada, Nilton Custodio, Ana Luisa Sosa, José Alberto Ávila‐Funes, María Isabel Behrens, Andrea Slachevsky, R Myers, J. Nicholas Cochran, Luis Ignacio Brusco, Martín A. Bruno, Sônia Maria Dozzi Brucki, Stefanie Danielle Piña‐Escudero, Maira Okada de Oliveira, Patricio Donnelly Kehoe, Adolfo M. García, Juan F. Cardona, Hernando Santamaría‐García, Sebastián Moguilner, Claudia Duran‐Aniotz, Enzo Tagliazucchi, Marcelo Adrián Maito, Erika Mariana Longoria Ibarrola, Maritza Pintado‐Caipa, Maria Eugenia Godoy, Vera Bakman, Shireen Javandel, Kenneth S. Kosik, Victor Valcour, Bruce L. Miller

    Published 2021
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  14. 14
    Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations

    Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations by Juliana Acosta‐Uribe, Stefanie Danielle Piña‐Escudero, J. Nicholas Cochran, Jared W. Taylor, Patricia A. Castruita, Caroline Jonson, Erin A. Barinaga, Kevin J. Roberts, A. Levine, David Solomon George, José Alberto Ávila‐Funes, María Isabel Behrens, Martín A. Bruno, Luis Ignacio Brusco, Nilton Custodio, Claudia Duran‐Aniotz, Francisco Lopera, Diana Matallana, Andrea Slachevsky, Leonel Tadao Takada, Lina Maria Zapata‐Restrepo, Dafne Estefania Durón-Reyes, Elisa de Paula França Resende, Nancy Gélvez, Maria Eugenia Godoy, Marcelo Adrián Maito, Shireen Javandel, Bruce L Miller, Mike A. Nalls, Hampton L. Leonard, Dan Vitale, Sara Bandrés‐Ciga, Mathew J. Koretsky, Andrew B. Singleton, Caroline B. Pantazis, Victor Valcour, Agustín Ibáñez, Kenneth S. Kosik, Jennifer S. Yokoyama

    Published 2024
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  15. 15
    Comprehensive Analysis of Genetic Contributions to Alzheimer’s Disease and Frontotemporal Dementia in Admixed Latin American Populations

    Comprehensive Analysis of Genetic Contributions to Alzheimer’s Disease and Frontotemporal Dementia in Admixed Latin American Populations by Juliana Acosta‐Uribe, Stefanie Danielle Piña‐Escudero, J. Nicholas Cochran, Jared W. Taylor, Caroline Warly Solsberg, Diana Matallana, Leonel Tadao Takada, Martín A. Bruno, A. Levine, David Solomon George, Francisco Lopera, Andrea Slachevsky, María Isabel Behrens, José Alberto Ávila‐Funes, Lina Maria Zapata‐Restrepo, Luis Ignacio Brusco, Nilton Custodio, Teresita Ramos Franco, Bárbara Bruna, Daniela P. Ponce, Nancy Gélvez, Greizy López, Luisa Fernanda Gómez, Carlos Buitrago, Pablo Reyes, Dafne Estefania Durón, Caroline B. Pantazis, Marcelo Adrián Maito, Shireen Javandel, Maria Eugenia Godoy, María Beatriz Bistué Millón, Dan Vitale, Mike A. Nalls, Andrew B. Singleton, Bruce L. Miller, Agustín Ibáñez, Kenneth S. Kosik, Jennifer S. Yokoyama, Rosa Montesinos, Elisa de Paula França Resende

    Published 2024
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  16. 16
    Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

    Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies by Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James M.J. Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, Gregory S. Barsh, Sarah Weckhuysen, Miriam H. Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, R Myers, Gregory M. Cooper, Heather C. Mefford, Pasquale Striano, Federico Zara, Ingo Helbig, Rikke S. Møller, Sarah von Spiczak, Hiltrud Muhle, Hande Çağlayan, Katalin Štěrbová, Dana Craiu, Dorota Hoffman, Anna‐Elina Lehesjoki, Kaja Kristine Selmer, Christel Depienne, Johannes R. Lemke, Carla Marini, Renzo Guerrini, Bernd A. Neubauer, Tiina Talvik, Eric Leguern, Peter De Jonghe, Sarah Weckhuysen

    Published 2018
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  17. 17
    Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations

    Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations by Juliana Acosta‐Uribe, Stefanie Danielle Piña‐Escudero, J. Nicholas Cochran, Jared P. Taylor, Alejandra Castruita, Caroline Jonson, Erin A. Barinaga, Kevin J. Roberts, A. Levine, David Solomon George, José Alberto Ávila‐Funes, María Isabel Behrens, Martín A. Bruno, Luis Ignacio Brusco, Nilton Custodio, Claudia Duran‐Aniotz, Francisco Lopera, Diana Matallana, Andrea Slachevsky, Leonel Tadao Takada, Lina Maria Zapata‐Restrepo, Dafne Estefania Durón-Reyes, Elisa de Paula França Resende, Nancy Gélvez, Luisa Fernanda Gómez, Maria Eugenia Godoy, Marcelo Adrián Maito, Shireen avandel, Bruce L Miller, Mike A. Nalls, Hampton L. Leonard, Dan Vitale, Sara Bandrés‐Ciga, Mathew J. Koretsky, Andrew B. Singleton, Caroline B. Pantazis, Victor Valcour, Agustín Ibáñez, Kenneth S. Kosik, Jennifer S. Yokoyama, María Beatriz Bistué

    Published 2025
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  18. 18
    Biomarkers for dementia in Latin American countries: Gaps and opportunities

    Biomarkers for dementia in Latin American countries: Gaps and opportunities by Mario A. Parra, Paulina Orellana, Tomás León, Victoria Cabello, Fernando Henríquez, Rodrigo Gómez, Constanza Avalos, Andrés Damián, Andrea Slachevsky, Agustín Ibáñez, Henrik Zetterberg, Betty M. Tijms, Jennifer S. Yokoyama, Stefanie Danielle Piña‐Escudero, J. Nicholas Cochran, Diana Matallana, Daisy Acosta, Ricardo Allegri, Bianca P. Arias‐Suárez, Bernardo Barra, María Isabel Behrens, Sônia Maria Dozzi Brucki, Geraldo F. Busatto, Paulo Caramelli, Sheila Castro‐Suárez, Valeria Contreras, Nilton Custodio, Sergio Dansilio, Myriam De la Cruz‐Puebla, Leonardo Cruz de Souza, Monica M. Diaz, Lissette Duque, Gonzalo Farías, Sérgio T. Ferreira, Nahuel Magrath Guimet, Ana Kmaid, David Lira, Francisco Lopera, Beatriz Mar Meza, Eliane Correa Miotto, Ricardo Nitríni, Alberto Núñez, Santiago O’Neill, John Fredy Ochoa, Maritza Pintado‐Caipa, Elisa de Paula França Resende, Shannon L. Risacher, Luz Ángela Rojas Bernal, Valentina Sabaj, Lucas Porcello Schilling, Allis F. Sellek, Ana Luisa Sosa, Leonel Tadao Takada, Antônio Lúcio Teixeira, Martha Unaucho‐Pilalumbo, Claudia Duran‐Aniotz

    Published 2022
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  19. 19
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... by Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen

    Published 2015
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  20. 20
    Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

    Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease by Henne Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier‐Boley, Olivier Quenez, Detelina Grozeva, Jeroen van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny J. Norsworthy, Oriol Dols‐Icardo, Holger Hummerich, Amit Kawalia, Philippe Amouyel, Gary W. Beecham, Claudine Berr, Joshua C. Bis, Anne Boland, Paola Bossù, Femke H. Bouwman, José Brás, Dominique Campion, J. Nicholas Cochran, Antonio Daniele, Jean‐François Dartigues, Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Anita L. DeStefano, Lindsay A. Farrer, María Victoria Fernández, Nick C. Fox, Daniela Galimberti, Emmanuelle Génin, Gilles Thomas, Yann Le Guen, Rita Guerreiro, Jonathan L. Haines, Clive Holmes, M. Arfan Ikram, M. Kamran Ikram, Iris E. Jansen, Robert Kraaij, M Lathrop, Afina W. Lemstra, Alberto Lleó, Lauren Luckcuck, Marcel M.A.M. Mannens, Iain Marshall, Eden R. Martin, Carlo Masullo, Richard Mayeux, Patrizia Mecocci, Alun Meggy, Merel O. Mol, Kevin Morgan, R Myers, Benedetta Nacmias, Adam C. Naj, Valerio Napolioni, Florence Pasquier, Pau Pástor, Margaret A. Pericak‐Vance, Rachel Raybould, Richard Redon, Marcel J. T. Reinders, Anne‐Claire Richard, Steffi G. Riedel‐Heller, Fernando Rivadeneira, Stéphane Rousseau, Natalie S. Ryan, Salha Saad, Pascual Sánchez‐Juan, Gerard D. Schellenberg, Philip Scheltens, Jonathan M. Schott, Davide Seripa, Sudha Seshadri, Daoud Sie, Erik A. Sistermans, Sandro Sorbi, Resie van Spaendonk, Gianfranco Spalletta, Niccoló Tesi, Betty M. Tijms, André G. Uitterlinden, Sven J. van der Lee, Pieter Jelle Visser, Michael Wagner, David Wallon, Li-San Wang, Aline Zaréa, Jordi Clarimón, John C. van Swieten, Michael D. Greicius, Jennifer S. Yokoyama, Carlos Cruchaga, John Hardy, Alfredo Ramı́rez

    Published 2022
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