Works by Cochran, J. Nicholas

Results: 29
    1

    Life‐Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy.

    Published in:
    Annals of Neurology, 2023, v. 94, n. 5, p. 969, doi. 10.1002/ana.26756
    By:
    • Johnson, Aime K.;
    • McCurdy, Victoria J.;
    • Gray‐Edwards, Heather L.;
    • Maguire, Anne S.;
    • Cochran, J. Nicholas;
    • Gross, Amanda L.;
    • Skinner, Haleigh E.;
    • Randle, Ashley N.;
    • Shirley, Jamie L.;
    • Brunson, Brandon L.;
    • Bradbury, Allison M.;
    • Leroy, Stanley G.;
    • Hwang, Misako;
    • Rockwell, Hannah E.;
    • Cox, Nancy R.;
    • Baker, Henry J.;
    • Seyfried, Thomas N.;
    • Sena‐Esteves, Miguel;
    • Martin, Douglas R.
    Publication type:
    Article
    2

    Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

    Published in:
    Acta Neuropathologica, 2019, v. 137, n. 1, p. 71, doi. 10.1007/s00401-018-1925-9
    By:
    • Geier, Ethan G.;
    • Bourdenx, Mathieu;
    • Storm, Nadia J.;
    • Cochran, J. Nicholas;
    • Sirkis, Daniel W.;
    • Hwang, Ji-Hye;
    • Bonham, Luke W.;
    • Ramos, Eliana Marisa;
    • Diaz, Antonio;
    • Van Berlo, Victoria;
    • Dokuru, Deepika;
    • Nana, Alissa L.;
    • Karydas, Anna;
    • Balestra, Maureen E.;
    • Huang, Yadong;
    • Russo, Silvia P.;
    • Spina, Salvatore;
    • Grinberg, Lea T.;
    • Seeley, William W.;
    • Myers, Richard M.
    Publication type:
    Article
    3

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

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01035-9
    By:
    • Acosta-Uribe, Juliana;
    • Aguillón, David;
    • Cochran, J. Nicholas;
    • Giraldo, Margarita;
    • Madrigal, Lucía;
    • Killingsworth, Bradley W.;
    • Singhal, Rijul;
    • Labib, Sarah;
    • Alzate, Diana;
    • Velilla, Lina;
    • Moreno, Sonia;
    • García, Gloria P.;
    • Saldarriaga, Amanda;
    • Piedrahita, Francisco;
    • Hincapié, Liliana;
    • López, Hugo E.;
    • Perumal, Nithesh;
    • Morelo, Leonilde;
    • Vallejo, Dionis;
    • Solano, Juan Marcos
    Publication type:
    Article
    4

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

    Published in:
    Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.631722
    By:
    • Ibanez, Agustin;
    • Yokoyama, Jennifer S.;
    • Possin, Katherine L.;
    • Matallana, Diana;
    • Lopera, Francisco;
    • Nitrini, Ricardo;
    • Takada, Leonel T.;
    • Custodio, Nilton;
    • Sosa Ortiz, Ana Luisa;
    • Avila-Funes, José Alberto;
    • Behrens, Maria Isabel;
    • Slachevsky, Andrea;
    • Myers, Richard M.;
    • Cochran, J. Nicholas;
    • Brusco, Luis Ignacio;
    • Bruno, Martin A.;
    • Brucki, Sonia M. D.;
    • Pina-Escudero, Stefanie Danielle;
    • Okada de Oliveira, Maira;
    • Donnelly Kehoe, Patricio
    Publication type:
    Article
    5
    6

    PEA15 loss of function and defective cerebral development in the domestic cat.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1008671
    By:
    • Graff, Emily C.;
    • Cochran, J. Nicholas;
    • Kaelin, Christopher B.;
    • Day, Kenneth;
    • Gray-Edwards, Heather L.;
    • Watanabe, Rie;
    • Koehler, Jey W.;
    • Falgoust, Rebecca A.;
    • Prokop, Jeremy W.;
    • Myers, Richard M.;
    • Cox, Nancy R.;
    • Barsh, Gregory S.;
    • Martin, Douglas R.
    Publication type:
    Article
    7

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

    Published in:
    Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
    By:
    • Snijders Blok, Lot;
    • Hiatt, Susan M.;
    • Bowling, Kevin M.;
    • Prokop, Jeremy W.;
    • Engel, Krysta L.;
    • Cochran, J. Nicholas;
    • Bebin, E. Martina;
    • Bijlsma, Emilia K.;
    • Ruivenkamp, Claudia A. L.;
    • Terhal, Paulien;
    • Simon, Marleen E. H.;
    • Smith, Rosemarie;
    • Hurst, Jane A.;
    • The DDD study;
    • McLaughlin, Heather;
    • Person, Richard;
    • Crunk, Amy;
    • Wangler, Michael F.;
    • Streff, Haley;
    • Symonds, Joseph D.
    Publication type:
    Article
    8
    9

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

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0433-1
    By:
    • Bowling, Kevin M.;
    • Thompson, Michelle L.;
    • Amaral, Michelle D.;
    • Finnila, Candice R.;
    • Hiatt, Susan M.;
    • Engel, Krysta L.;
    • Cochran, J. Nicholas;
    • Brothers, Kyle B.;
    • East, Kelly M.;
    • Gray, David E.;
    • Kelley, Whitley V.;
    • Lamb, Neil E.;
    • Lose, Edward J.;
    • Rich, Carla A.;
    • Simmons, Shirley;
    • Whittle, Jana S.;
    • Weaver, Benjamin T.;
    • Nesmith, Amy S.;
    • Myers, Richard M.;
    • Barsh, Gregory S.
    Publication type:
    Article
    10

    Contributions of rare and common variation to early-onset and atypical dementia risk.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006271
    By:
    • Wright, Carter A.;
    • Taylor, Jared W.;
    • Cochran, Meagan;
    • Lawlor, James M. J.;
    • Moyers, Belle A.;
    • Amaral, Michelle D.;
    • Bonnstetter, Zachary T.;
    • Carter, Princess;
    • Solomon, Veronika;
    • Myers, Richard M.;
    • Love, Marissa Natelson;
    • Geldmacher, David S.;
    • Cooper, Sara J.;
    • Roberson, Erik D.;
    • Cochran, J. Nicholas
    Publication type:
    Article
    11

    Early‐onset Alzheimer's disease explained by polygenic risk of late‐onset disease?

    Published in:
    Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2023, v. 15, n. 4, p. 1, doi. 10.1002/dad2.12482
    By:
    • Mantyh, William G.;
    • Cochran, J. Nicholas;
    • Taylor, Jared W.;
    • Broce, Iris J.;
    • Geier, Ethan G.;
    • Bonham, Luke W.;
    • Anderson, Ashlyn G.;
    • Sirkis, Daniel W.;
    • Joie, Renaud La;
    • Iaccarino, Leonardo;
    • Chaudhary, Kiran;
    • Edwards, Lauren;
    • Strom, Amelia;
    • Grant, Harli;
    • Allen, Isabel E.;
    • Miller, Zachary A.;
    • Gorno‐Tempini, Marilu L.;
    • Kramer, Joel H.;
    • Miller, Bruce L.;
    • Desikan, Rahul S.
    Publication type:
    Article
    12
    13

    Predicting Neurodegenerative Diseases: Unveiling the Interplay of Genetics and Social Determinants.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. S2, p. 1, doi. 10.1002/alz.089721
    By:
    • Escudero, Stefanie Danielle Pina;
    • Migeot, Joaquín;
    • Hernandez, Hernan;
    • Acosta‐Uribe, Juliana;
    • Cochran, J. Nicholas;
    • Taylor, Jared W;
    • Funes, José Alberto Ávila;
    • Matallana, Diana;
    • Lopera, Francisco;
    • Custodio, Nilton;
    • Behrens, María Isabel;
    • Chonchol, Andrea Slachevsky;
    • Bruno, Martin Alejandro;
    • Brusco, Luis Ignacio;
    • Takada, Leonel Tadao;
    • de Paula, Elisa;
    • Resende, França;
    • Reyes, Pablo A;
    • Gelvez, Nancy;
    • Franco, Teresita Ramos
    Publication type:
    Article
    14

    Comprehensive Analysis of Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, p. 1, doi. 10.1002/alz.093055
    By:
    • Acosta‐Uribe, Juliana;
    • Escudero, Stefanie Danielle Pina;
    • Cochran, J. Nicholas;
    • Taylor, Jared W;
    • Solsberg, Caroline Warly;
    • Matallana, Diana;
    • Takada, Leonel Tadao;
    • Bruno, Martin Alejandro;
    • Levine, Alexandra R.;
    • George, Dawwod S.;
    • Lopera, Francisco;
    • Chonchol, Andrea Slachevsky;
    • Behrens, María Isabel;
    • Funes, José Alberto Ávila;
    • Zapata‐Restrepo, Lina Maria;
    • Brusco, Luis Ignacio;
    • Custodio, Nilton;
    • Franco, Teresita Ramos;
    • Bruna, Bárbara;
    • Ponce, Daniela P
    Publication type:
    Article
    15
    16

    An ANXA11 P93S variant dysregulates TDP‐43 and causes corticobasal syndrome.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 8, p. 5220, doi. 10.1002/alz.13915
    By:
    • Snyder, Allison;
    • Ryan, Veronica H.;
    • Hawrot, James;
    • Lawton, Sydney;
    • Ramos, Daniel M.;
    • Qi, Y. Andy;
    • Johnson, Kory R.;
    • Reed, Xylena;
    • Johnson, Nicholas L.;
    • Kollasch, Aaron W.;
    • Duffy, Megan F.;
    • VandeVrede, Lawren;
    • Cochran, J. Nicholas;
    • Miller, Bruce L.;
    • Toro, Camilo;
    • Bielekova, Bibiana;
    • Marks, Debora S.;
    • Yokoyama, Jennifer S.;
    • Kwan, Justin Y.;
    • Cookson, Mark R.
    Publication type:
    Article
    17

    Identification of cis‐regulatory elements associated with MAPT expression in human induced pluripotent stem cell derived neural cells.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.072171
    By:
    • Rogers, Brianne B.;
    • Anderson, Ashlyn G;
    • Lauzon, Shelby N.;
    • Davis, M. Natalie;
    • Hauser, Rebecca M.;
    • Roberts, Sydney C.;
    • Rodriguez‐Nunez, Ivan;
    • Trausch‐Lowther, Katie;
    • Roberts, Brian S.;
    • Barinaga, Erin A.;
    • Rizzardi, Lindsay F.;
    • Cooper, Sara J.;
    • Myers, Richard M.;
    • Cochran, J. Nicholas
    Publication type:
    Article
    18

    Identification of cis‐regulatory elements associated with MAPT expression in human induced pluripotent stem cell derived neural cells.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.072171
    By:
    • Rogers, Brianne B.;
    • Anderson, Ashlyn G;
    • Lauzon, Shelby N.;
    • Davis, M. Natalie;
    • Hauser, Rebecca M.;
    • Roberts, Sydney C.;
    • Rodriguez‐Nunez, Ivan;
    • Trausch‐Lowther, Katie;
    • Roberts, Brian S.;
    • Barinaga, Erin A.;
    • Rizzardi, Lindsay F.;
    • Cooper, Sara J.;
    • Myers, Richard M.;
    • Cochran, J. Nicholas
    Publication type:
    Article
    19

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

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, n. 2, p. 721, doi. 10.1002/alz.12757
    By:
    • Parra, Mario A.;
    • Orellana, Paulina;
    • Leon, Tomas;
    • Victoria, Cabello G.;
    • Henriquez, Fernando;
    • Gomez, Rodrigo;
    • Avalos, Constanza;
    • Damian, Andres;
    • Slachevsky, Andrea;
    • Ibañez, Agustin;
    • Zetterberg, Henrik;
    • Tijms, Betty M.;
    • Yokoyama, Jennifer S.;
    • Piña‐Escudero, Stefanie D.;
    • Cochran, J. Nicholas;
    • Matallana, Diana L.;
    • Acosta, Daisy;
    • Allegri, Ricardo;
    • Arias‐Suárez, Bianca P.;
    • Barra, Bernardo
    Publication type:
    Article
    20
    21

    Development of small‐molecule tau‐SH3 interaction inhibitors that prevent amyloid‐β toxicity.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.055501
    By:
    • Roth, Jonathan R;
    • Rush, Travis;
    • Pugh, Derian A;
    • Dean, Hunter B;
    • Cochran, J. Nicholas;
    • Thompson, Samantha J;
    • Aldaher, Adam R;
    • Mesina, Jacob S;
    • Ruiz, Pedro;
    • Pathak, Vibha;
    • Wu, Mousheng;
    • Bostwick, J Robert;
    • Suto, Mark J;
    • Augelli‐Szafran, Corinne E;
    • Roberson, Erik D.
    Publication type:
    Article
    22
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    24

    P3‐143: UTILITY OF GENOMIC SEQUENCING IN CASES OF EARLY‐ONSET AND FAMILIAL DEMENTIA.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P986, doi. 10.1016/j.jalz.2019.06.3171
    By:
    • Cochran, Meagan E.;
    • Cochran, J. Nicholas;
    • McKinley, Emily;
    • Amaral, Michelle D.;
    • Moyer, Bryan;
    • Lasseigne, Brittany N.;
    • Gray, David;
    • Lawlor, James M.J.;
    • Prokop, Jeremy;
    • Newberry, J. Scott;
    • Worthey, Elizabeth A.;
    • Geldmacher, David S.;
    • Natelson Love, Marissa C.;
    • Myers, Richard M.;
    • Roberson, Erik D.
    Publication type:
    Article
    25

    P2‐126: LOSS‐OF‐FUNCTION CODING AND NON‐CODING VARIANTS IN TET2 ARE ASSOCIATED WITH NEURODEGENERATIVE DISEASES.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P620, doi. 10.1016/j.jalz.2019.06.2533
    By:
    • Cochran, J. Nicholas;
    • Geier, Ethan G.;
    • Acosta-Uribe, Juliana;
    • Thompson, Michelle L.;
    • Amaral, Michelle D.;
    • Newberry, J. Scott;
    • Lawlor, James M.J.;
    • Lasseigne, Brittany N.;
    • Cochran, Meagan E.;
    • Bonham, Luke W.;
    • Karydas, Anna M.;
    • Roberson, Erik D.;
    • Lopera, Francisco;
    • Kosik, Kenneth S.;
    • Cooper, Gregory M.;
    • Rabinovici, Gil D.;
    • Miller, Bruce L.;
    • Myers, Richard M.;
    • Yokoyama, Jennifer S.
    Publication type:
    Article
    26

    Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr).

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, n. 5, p. 709, doi. 10.1016/j.jalz.2018.12.010
    By:
    • Ramirez Aguilar, Laura;
    • Acosta‐Uribe, Juliana;
    • Giraldo, Margarita M.;
    • Moreno, Sonia;
    • Baena, Ana;
    • Alzate, Diana;
    • Cuastumal, Rosario;
    • Aguillón, David;
    • Madrigal, Lucía;
    • Saldarriaga, Amanda;
    • Navarro, Alexander;
    • Garcia, Gloria P.;
    • Aguirre‐Acevedo, Daniel C.;
    • Geier, Ethan G.;
    • Cochran, J. Nicholas;
    • Quiroz, Yakeel T.;
    • Myers, Richard M.;
    • Yokoyama, Jennifer S.;
    • Kosik, Kenneth S.;
    • Lopera, Francisco
    Publication type:
    Article
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    Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy.

    Published in:
    Molecular Therapy, 2013, v. 21, n. 7, p. 1306, doi. 10.1038/mt.2013.86
    By:
    • Bradbury, Allison M;
    • Cochran, J Nicholas;
    • McCurdy, Victoria J;
    • Johnson, Aime K;
    • Brunson, Brandon L;
    • Gray-Edwards, Heather;
    • Leroy, Stanley G;
    • Hwang, Misako;
    • Randle, Ashley N;
    • Jackson, Laura S;
    • Morrison, Nancy E;
    • Baek, Rena C;
    • Seyfried, Thomas N;
    • Cheng, Seng H;
    • Cox, Nancy R;
    • Baker, Henry J;
    • Cachón-González, M Begona;
    • Cox, Timothy M;
    • Sena-Esteves, Miguel;
    • Martin, Douglas R
    Publication type:
    Article