Myopathy and Less Frequent Complications of Cystinosis by Thoene, Jess G., MD

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Introduction to “Extra-Renal Complications of Cystinosis” by Thoene, Jess G., MD

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Conclusions to the Supplement, “Extra-Renal Complications of Cystinosis” by Thoene, Jess G., MD

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Programmed Cell Death in Cystinosis by Ames, Elizabeth G, Thoene, Jess G

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Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea by Thoene, Jess G., DelMonte, Monte A., Mullet, Jodi

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Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency by Quinonez, Shane C., MD, Leber, Steven M., MD, Martin, Donna M., MD, PhD, Thoene, Jess G., MD, Bedoyan, Jirair K., MD, PhD

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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders by Wolff, Markus, Johannesen, Katrine M, Hedrich, Ulrike B S, Masnada, Silvia, Rubboli, Guido, Gardella, Elena, Lesca, Gaetan, Ville, Dorothée, Milh, Mathieu, Villard, Laurent, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline, Schwarz, Niklas, Gérard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stéphane, Miranda, Maria J, Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P, Mancini, Grazia, Biskup, Saskia, Hörtnagel, Konstanze, Döcker, Miriam, Bast, Thomas, Loddenkemper, Tobias, Wong-Kisiel, Lily, Baumeister, Friedrich M, Fazeli, Walid, Striano, Pasquale, Dilena, Robertino, Fontana, Elena, Zara, Federico, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G, Arndt, Daniel H, Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brückner, Reinhard, Pietz, Joachim, Golla, Günther, Jillella, Dinesh, Linnet, Karen M, Charles, Perrine, Moog, Ute, Õiglane-Shlik, Eve, Mantovani, John F, Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L, Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah, Lemke, Johannes R, Krägeloh-Mann, Ingeborg, Helbig, Ingo, Kluger, Gerhard, Lerche, Holger, Møller, Rikke S

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The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies by Larsen, Christopher P., Walker, Patrick D., Thoene, Jess G.

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In memoriam: Jerry Allan Schneider, 1937–2021 by Barshop, Bruce A., Jonas, Adam J., Gahl, William A., Thoene, Jess G.

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A review of the role of enhanced apoptosis in the pathophysiology of cystinosis by Thoene, Jess G.

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Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cδ by PARK, Margaret A, PEJOVIC, Vojislav, KERISIT, Kathryn G, JUNIUS, Sacha, THOENE, Jess G

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Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes by Helip-Wooley, Amanda, Thoene, Jess G

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ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine by Venkatarangan, Varsha, Zhang, Weichao, Yang, Xi, Thoene, Jess G, Hahn, Si H, Li, Ming

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Potential role of apoptosis in development of the cystinotic phenotype by Park, Margaret A, Thoene, Jess G

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Microvesicle-mediated delivery of cystinosin to rabbit cornea by Thoene, Jess G, Mullet, Jodi

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A rabbit model of nephropathic cystinosis by Yang, Dongshan, Song, Jun, Xu, Jie, Zhang, Jifeng, Chen, Y. Eugene, Thoene, Jess G.

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Safety and feasibility of liver- directed ex vivo gene therapy for homozygous familial hypercholesterolemia by RAPER, S. E, GROSSMAN, M, RADER, D. J, THOENE, J. G, CLARK, B. J, KOLANSKY, D. M, MULLER, D. W. M, WILSON, J. M

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First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future by Kleta, Robert, Kaskel, Frederick, Dohil, Ranjan, Goodyer, Paul, Guay-Woodford, Lisa M, Harms, Erik, Ingelfinger, Julie R, Koch, Vera H, Langman, Craig B, Leonard, Mary B, Mannon, Roslyn B, Sarwal, Minnie, Schneider, Jerry A, Skovby, Flemming, Sonies, Barbara C, Thoene, Jess G, Trauner, Doris A, Gahl, William A

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Treatment of urea cycle disorders by Thoene, Jess G.

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Orphan Drugs and Orphan Tests in the USA by Thoene, Jess G.

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