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Refugio A. Martinez

Allen Institute for Brain Science

21H-index
50Paper Count
1.9KCitation Count
Published Papers 16
Publication Date
AAV delivery of full length SYNGAP1 rescues epileptic and behavioral phenotypes in a mouse model of SYNGAP1-related disorders
err2025-09-23
err0
errOAAI
errMeagan A. Quinlan; Rong Guo; Andrew G. Clark; Emily M. Luber; Robert J. Christian; Refugio A. Martinez; Erin L. Groce; Jiatai Liu; Yemeserach M. Bishaw; Ravi Bhowmik; Elizabeth Liang; Melissa Reding; Kara Ronellenfitch; Vonn Wright; Kathryn M. Gudsnuk; Jennifer M. Leedy; John K. Mich; Bryan B. Gore; Tanya L. Daigle; Manuel E. Lopez; Ed S. Lein; Justin K. Ichida; Boaz P. Levi
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Interneuron-specific dual-AAV SCN1A gene replacement corrects epileptic phenotypes in mouse models of Dravet syndrome
err2025-03-19
err1
PREAI
errMich, John K.; Ryu, Jiyun; Wei, Aguan D.; Gore, Bryan B.; Guo, Rong; Bard, Angela M.; Martinez, Refugio A.; Luber, Emily M.; Liu, Jiatai; Bishaw, Yemeserach M.; Christian, Robert J.; Oliveira, Luiz M.; Miranda, Nicole; Ramirez, Jan-Marino; Ting, Jonathan T.; Lein, Ed S.; Levi, Boaz P.
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A versatile cell line for establishing potency of cell type-specific AAV transgenes
err2025-03-01
err0
errOAAI
errMartinez, Refugio A.; Bishaw, Yemeserach M.; Quinlan, Meagan A.; Groce, Erin L.; Gore, Bryan B.; Lein, Ed S.; Mich, John K.; Levi, Boaz P.
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Pharmacologic enhancement of retromer rescues endosomal pathology induced by defects in the Alzheimer's gene SORL1
err2023-12-01
err4
errOAAI
errMishra, Swati; Knupp, Allison; Kinoshita, Chizuru; Williams, C. Andrew; Rose, Shannon E.; Martinez, Refugio; Theofilas, Panos; Young, Jessica E.
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Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations
err2022-08-01
err3
errOAAI
errEdelman, William C.; Kiianitsa, Kostantin; Virmani, Tuhin; Martinez, Refugio A.; Young, Jessica E.; Keene, C. Dirk; Bird, Thomas D.; Raskind, Wendy H.; Korvatska, Olena
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Functional enhancer elements drive subclass-selective expression from mouse to primate neocortex
err2021-03-01
err90
errOAAI
errMich, 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.
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A Rainbow Reporter Tracks Single Cells and Reveals Heterogeneous Cellular Dynamics among Pluripotent Stem Cells and Their Differentiated Derivatives
err2020-07-01
err17
errOAAI
errEl-Nachef, Danny; Shi, Kevin; Beussman, Kevin M.; Martinez, Refugio; Regier, Mary C.; Everett, Guy W.; Murry, Charles E.; Stevens, Kelly R.; Young, Jessica E.; Sniadecki, Nathan J.; Davis, Jennifer
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Depletion of the AD Risk Gene SORL1 Selectively Impairs Neuronal Endosomal Traffic Independent of Amyloidogenic APP Processing
err2020-06-01
err103
errOAAI
errKnupp, Allison; Mishra, Swati; Martinez, Refugio; Braggin, Jacquelyn E.; Szabo, Marcell; Kinoshita, Chizuru; Hailey, Dale W.; Small, Scott A.; Jayadev, Suman; Young, Jessica E.
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Leptomeninges-Derived Induced Pluripotent Stem Cells and Directly Converted Neurons From Autopsy Cases With Varying Neuropathologic Backgrounds
err2018-02-21
err16
errOAAI
errRose, Shannon E.; Frankowski, Harald; Knupp, Allison; Berry, Bonnie J.; Martinez, Refugio; Dinh, Stephanie Q.; Bruner, Lauren T.; Willis, Sherry L.; Crane, Paul K.; Larson, Eric B.; Grabowski, Thomas; Darvas, Martin; Keene, C. Dirk; Young, Jessica E.
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Dynamics of embryonic stem cell differentiation inferred from single-cell transcriptomics show a series of transitions through discrete cell states
err2017-03-15
err30
errOAAI
errJang, 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
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A Single-Cell Roadmap of Lineage Bifurcation in Human ESC Models of Embryonic Brain Development
err2017-01-01
err112
errOAAI
errYao, Zizhen; Mich, John K.; Ku, Sherman; Menon, Vilas; Krostag, Anne-Rachel; Martinez, Refugio A.; Furchtgott, Leon; Mulholland, Heather; Bort, Susan; Fuqua, Margaret A.; Gregor, Ben W.; Hodge, Rebecca D.; Jayabalu, Anu; May, Ryan C.; Melton, Samuel; Nelson, Angelique M.; Ngo, N. Kiet; Shapovalova, Nadiya V.; Shehata, Soraya I.; Smith, Michael W.; Tait, Leah J.; Thompson, Carol L.; Thomsen, Elliot R.; Ye, Chaoyang; Glass, Ian A.; Kaykas, Ajamete; Yao, Shuyuan; Phillips, John W.; Grimley, Joshua S.; Levi, Boaz P.; Wang, Yanling; Ramanathan, Sharad
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Genome engineering of isogenic human ES cells to model autism disorders
err2015-03-11
err15
errOAAI
errMartinez, 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.
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Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7 (vol 31, pg 913, 2001)
errNEURON
IF15
err2001-12-01
err3
errOAAI
errLa Spada, AR; Fu, YH; Sopher, BL; Libby, RT; Wang, XJ; Li, LY; Einum, DD; Huang, J; Possin, DE; Smith, AC; Martinez, RA; Koszdin, KL; Treuting, PM; Ware, CB; Hurley, JB; Ptácek, LJ; Chen, SM
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Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7
errNEURON
IF15
err2001-09-01
err207
errOAAI
errLa Spada, AR; Fu, YH; Sopher, BL; Libby, RT; Wang, XJ; Li, LY; Einum, DD; Huang, J; Possin, DE; Smith, AC; Martinez, RA; Koszdin, KL; Treuting, PM; Ware, CB; Hurley, JB; Ptácek, LJ; Chen, SM
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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease
err2000-08-22
err67
PREAI
errFernandez, M; McCain, ME; Martinez, RA; Snow, K; Lipe, H; Ravits, J; Bird, TD; La Spada, AR
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