Arama Sonuçları - Maegawa, Gustavo H.B.

Lysosomal Leukodystrophies Lysosomal Storage Diseases associated with White Matter Abnormalities Yazar: Maegawa, Gustavo H.B.

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Neuropathic Lysosomal Storage Disorders Yazar: Pastores, Gregory M., Maegawa, Gustavo H.B.

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CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges Yazar: Edelmann, Mariola J., Maegawa, Gustavo H. B.

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Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease Yazar: Katabuchi, Asaka U., Godoy, Vivian, Shil, Priya, Moser, Ann, Maegawa, Gustavo H.B.

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Fluorescent Labeling of Small Extracellular Vesicles (EVs) Isolated from Conditioned Media Yazar: Santelices, John, Ou, Mark, Hui, Winnie W., Maegawa, Gustavo H. B., Edelmann, Mariola J.

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Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease Yazar: Ribbens, Jameson J., Moser, Ann B., Hubbard, Walter C., Bongarzone, Ernesto R., Maegawa, Gustavo H.B.

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PYRIMETHAMINE AS A POTENTIAL PHARMACOLOGICAL CHAPERONE FOR LATE-ONSET FORMS OF GM2 GANGLIOSIDOSIS Yazar: Maegawa, Gustavo H. B., Tropak, Michael, Butner, Justin, Stockley, Tracy, Kok, Fernando, Clarke, Joe T. R., Mahuran, Don J.

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A High-throughput Screening Assay using Krabbe Disease Patient Cells Yazar: Ribbens, Jameson, Whiteley, Grace, Furuya, Hirokazu, Southall, Noel, Hu, Xin, Marugan, Juan, Ferrer, Marc, Maegawa, Gustavo H.B.

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Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1 Yazar: Han, Shiqian, Zhang, Huiwen, Yi, Mengni, Liu, Xiaoqing, Maegawa, Gustavo H. B., Zou, Yunding, Wang, Qijun, Wu, Dianqing, Ye, Zhijia

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The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported Yazar: Maegawa, Gustavo H. B., Stockley, Tracy, Tropak, Michael, Banwell, Brenda, Blaser, Susan, Kok, Fernando, Giugliani, Roberto, Mahuran, Don, Clarke, Joe T. R.

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Novel Patient Cell-Based HTS Assay for Identification of Small Molecules for a Lysosomal Storage Disease Yazar: Geng, Haifeng, Whiteley, Grace, Ribbens, Jameson, Zheng, Wei, Southall, Noel, Hu, Xin, Marugan, Juan J., Ferrer, Marc, Maegawa, Gustavo H. B.

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Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease Yazar: Goker-Alpan, Ozlem, Gambello, Michael J., Maegawa, Gustavo H. B., Nedd, Khan J., Gruskin, Daniel J., Blankstein, Larry, Weinreb, Neal J.

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Cell-based High-throughput Screen identifies GALC Enhancers as Potential Small Molecules Therapies for Krabbe Disease Yazar: Jang, Dae Song, Ye, Wenjuan, Guimei, Tian, Solomon, Melani, Southall, Noel, Hu, Xin, Marugan, Juan, Ferrer, Marc, Maegawa, Gustavo H.B.

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Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease Yazar: Maegawa, Gustavo H. B., Tropak, Michael B., Buttner, Justin D., Rigat, Brigitte A., Fuller, Maria, Pandit, Deepangi, Tang, Liangiie, Kornhaber, Gregory J., Hamuro, Yoshitomo, Clarke, Joe T. R., Mahuran, Don J.

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Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo Yazar: Hui, Winnie W., Emerson, Lisa E., Clapp, Beata, Sheppe, Austin E., Sharma, Jatin, del Castillo, Johanna, Ou, Mark, Maegawa, Gustavo H. B., Hoffman, Carol, Larkin, III, Joseph, Pascual, David W., Ferraro, Mariola J.

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Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency Yazar: Zulfiqar, Maria, Lin, Doris D.M., Van der Graaf, Marinette, Barker, Peter B., Fahrner, Jill A., Marie, Sandrine, Morava, Eva, De Boer, Lonneke, Willemsen, Michel A.A.P, Vining, Eileen, Horská, Alena, Engelke, Udo, Wevers, Ron A., Maegawa, Gustavo H.B.

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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect Yazar: Metz, Kyle A, Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D., Anderson, Glenn W., Leshinsky-Silver, Esther, Bi, Weimin, Markello, Thomas C., Pratt, Marsha, Makhseed, Nawal, Garnica, Adolfo, Danylchuk, Noelle R., Burrow, Thomas A., Jayakar, Parul, McKnight, Dianalee, Agadi, Satish, Gbedawo, Hatha, Stanley, Christine, Alber, Michael, Prehl, Isabelle, Peariso, Katrina, Ong, Min Tsui, Mordekar, Santosh R, Parker, Michael J, Crooks, Daniel, Agrawal, Pankaj B., Berry, Gerard T., Loddenkemper, Tobias, Yang, Yaping, Maegawa, Gustavo H.B., Aouacheria, Abdel, Markle, Janet G., Wohlschlegel, James A., Hartman, Adam L., Hardwick, J. Marie

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Yazar: O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H.

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