CORTECON: A Temporal Transcriptome Analysis of In Vitro Human Cerebral Cortex Development from Human Embryonic Stem Cells
van de Leemput, Joyce, Boles, Nathan C., Kiehl, Thomas R., Corneo, Barbara, Lederman, Patty, Menon, Vilas, Lee, Changkyu, Martinez, Refugio A., Levi, Boaz P., Thompson, Carol L., Yao, Shuyuan, Kaykas, Ajamete, Temple, Sally, Fasano, Christopher A.
Published in Neuron (Cambridge, Mass.) (02.07.2014)
Published in Neuron (Cambridge, Mass.) (02.07.2014)
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Dynamics of embryonic stem cell differentiation inferred from single-cell transcriptomics show a series of transitions through discrete cell states
Jang, Sumin, Choubey, Sandeep, Furchtgott, Leon, Zou, Ling-Nan, Doyle, Adele, Menon, Vilas, Loew, Ethan B, Krostag, Anne-Rachel, Martinez, Refugio A, Madisen, Linda, Levi, Boaz P, Ramanathan, Sharad
Published in eLife (15.03.2017)
Published in eLife (15.03.2017)
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Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk
Young, Jessica E, Garden, Gwenn A, Martinez, Refugio A, Tanaka, Fumiaki, Miguel Sandoval, C, Smith, Annette C, Sopher, Bryce L, Lin, Amy, Fischbeck, Kenneth H, Ellerby, Lisa M, Morrison, Richard S, Taylor, J. Paul, La Spada, Albert R
Published in The Journal of neuroscience (18.02.2009)
Published in The Journal of neuroscience (18.02.2009)
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The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration ( pcd) mice
Chakrabarti, Lisa, Eng, Jeremiah, Martinez, Refugio A., Jackson, Stephen, Huang, Jing, Possin, Daniel E., Sopher, Bryce L., Spada, Albert R. La
Published in Vision research (Oxford) (01.09.2008)
Published in Vision research (Oxford) (01.09.2008)
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Journal Article
Polyglutamine-Expanded Ataxin-7 Promotes Non-Cell-Autonomous Purkinje Cell Degeneration and Displays Proteolytic Cleavage in Ataxic Transgenic Mice
Garden, Gwenn A, Libby, Randell T, Fu, Ying-Hui, Kinoshita, Yoshito, Huang, Jing, Possin, Daniel E, Smith, Annette C, Martinez, Refugio A, Fine, Gabriel C, Grote, Sara K, Ware, Carol B, Einum, David D, Morrison, Richard S, Ptacek, Louis J, Sopher, Bryce L, Spada, Albert R. La
Published in The Journal of neuroscience (15.06.2002)
Published in The Journal of neuroscience (15.06.2002)
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Journal Article
Retromer stabilizing compounds rescue enlarged endosome phenotypes in hiPSC‐derived models of AD
Knupp, Allison, Martinez, Refugio A, Jayadev, Suman, Young, Jessica E.
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
Functional enhancer elements drive subclass-selective expression from mouse to primate neocortex
Mich, John K., Graybuck, Lucas T., Hess, Erik E., Mahoney, Joseph T., Kojima, Yoshiko, Ding, Yi, Somasundaram, Saroja, Miller, Jeremy A., Kalmbach, Brian E., Radaelli, Cristina, Gore, Bryan B., Weed, Natalie, Omstead, Victoria, Bishaw, Yemeserach, Shapovalova, Nadiya V., Martinez, Refugio A., Fong, Olivia, Yao, Shenqin, Mortrud, Marty, Chong, Peter, Loftus, Luke, Bertagnolli, Darren, Goldy, Jeff, Casper, Tamara, Dee, Nick, Opitz-Araya, Ximena, Cetin, Ali, Smith, Kimberly A., Gwinn, Ryder P., Cobbs, Charles, Ko, Andrew L., Ojemann, Jeffrey G., Keene, C. Dirk, Silbergeld, Daniel L., Sunkin, Susan M., Gradinaru, Viviana, Horwitz, Gregory D., Zeng, Hongkui, Tasic, Bosiljka, Lein, Ed S., Ting, Jonathan T., Levi, Boaz P.
Published in Cell reports (Cambridge) (30.03.2021)
Published in Cell reports (Cambridge) (30.03.2021)
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Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations
Edelman, William C., Kiianitsa, Kostantin, Virmani, Tuhin, Martinez, Refugio A., Young, Jessica E., Keene, C. Dirk, Bird, Thomas D., Raskind, Wendy H., Korvatska, Olena
Published in Parkinsonism & related disorders (01.08.2022)
Published in Parkinsonism & related disorders (01.08.2022)
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Journal Article
Genome engineering of isogenic human ES cells to model autism disorders
Martinez, Refugio A, Stein, Jason L, Krostag, Anne-Rachel F, Nelson, Angelique M, Marken, John S, Menon, Vilas, May, Ryan C, Yao, Zizhen, Kaykas, Ajamete, Geschwind, Daniel H, Grimley, Joshua S
Published in Nucleic acids research (26.05.2015)
Published in Nucleic acids research (26.05.2015)
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Journal Article
Polyglutamine-Expanded Ataxin-7 Antagonizes CRX Function and Induces Cone-Rod Dystrophy in a Mouse Model of SCA7
La Spada, Albert R., Fu, Ying-Hui, Sopher, Bryce L., Libby, Randell T., Wang, Xuejiao, Li, Lili Y., Einum, David D., Huang, Jing, Possin, Daniel E., Smith, Annette C., Martinez, Refugio A., Koszdin, Kari L., Treuting, Piper M., Ware, Carol B., Hurley, James B., Ptáček, Louis J., Chen, Shiming
Published in Neuron (Cambridge, Mass.) (27.09.2001)
Published in Neuron (Cambridge, Mass.) (27.09.2001)
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Journal Article
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
Libby, Randell T., Monckton, Darren G., Fu, Ying-Hui, Martinez, Refugio A., McAbney, John P., Lau, R., Einum, David D., Nichol, K., Ware, Carol B., Ptacek, Louis J., Pearson, Christopher E., La Spada, Albert R.
Published in Human molecular genetics (01.01.2003)
Published in Human molecular genetics (01.01.2003)
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Journal Article
The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein
Chakrabarti, Lisa, Neal, James T, Miles, Michael, Martinez, Refugio A, Smith, Annette C, Sopher, Bryce L, La Spada, Albert R
Published in Mammalian genome (01.02.2006)
Published in Mammalian genome (01.02.2006)
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Journal Article
AAV-mediated interneuron-specific gene replacement for Dravet syndrome
Mich, John K, Ryu, Jiyun, Wei, Aguan D, Gore, Bryan B, Guo, Rong, Bard, Angela M, Martinez, Refugio A, Bishaw, Yemeserach, Luber, Em, Oliveira Santos, Luiz M, Miranda, Nicole, Ramirez, Jan-Marino, Ting, Jonathan T, Lein, Ed S, Levi, Boaz P, Kalume, Franck K
Published in bioRxiv (15.12.2023)
Published in bioRxiv (15.12.2023)
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Modulating SORL1 expression affects endolysosomal trafficking function in hiPSC‐derived models of Alzheimer's disease: Molecular and cell biology/endosomal‐lysosomal dysfunction
Knupp, Allison, Mishra, Swati, Martinez, Refugio A., Young, Jessica E.
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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