Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology von Cawley, Niamh X, Sojka, Caitlin, Cougnoux, Antony, Lyons, Anna T, Nicoli, Elena-Raluca, Wassif, Christopher A, Porter, Forbes D

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IDH1 mutations induce organelle defects via dysregulated phospholipids von Lita, Adrian, Pliss, Artem, Kuzmin, Andrey, Yamasaki, Tomohiro, Zhang, Lumin, Dowdy, Tyrone, Burks, Christina, de Val, Natalia, Celiku, Orieta, Ruiz-Rodado, Victor, Nicoli, Elena-Raluca, Kruhlak, Michael, Andresson, Thorkell, Das, Sudipto, Yang, Chunzhang, Schmitt, Rebecca, Herold-Mende, Christel, Gilbert, Mark R., Prasad, Paras N., Larion, Mioara

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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease von Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.

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Gene expression changes in Tay–Sachs disease begin early in fetal brain development von Han, Sangwoo T., Hirt, Ashley, Nicoli, Elena‐Raluca, Kono, Mari, Toro, Camilo, Proia, Richard L., Tifft, Cynthia J.

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GM1 Gangliosidosis-A Mini-Review von Nicoli, Elena-Raluca, Annunziata, Ida, d'Azzo, Alessandra, Platt, Frances M, Tifft, Cynthia J, Stepien, Karolina M

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Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program von Montano, Carolina, Cassini, Thomas, Ziegler, Shira G., Boehm, Manfred, Nicoli, Elena‐Raluca, Mindell, Joseph A., Soldatos, Ariane G., Manoli, Irini, Wolfe, Lynne, Macnamara, Ellen F., Malicdan, May Christine V., Adams, David R., Tifft, Cynthia J., Toro, Camilo, Gahl, William A.

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Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 Gangliosidosis von Allende, Maria L., Lee, Y. Terry, Byrnes, Colleen, Li, Cuiling, Tumetova, Galina, Bakir, Jenna Y., Nicoli, Elena-Raluca, James, Virginia K., Brodbelt, Jennifer S., Tifft, Cynthia J., Proia, Richard L.

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NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls von Probert, Fay, Ruiz-Rodado, Victor, Vruchte, Danielle te, Nicoli, Elena-Raluca, Claridge, Tim D. W., Wassif, Christopher A., Farhat, Nicole, Porter, Forbes D., Platt, Frances M., Grootveld, Martin

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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome von Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S, Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V

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Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease von Nicoli, Elena-Raluca, Al Eisa, Nada, Cluzeau, Celine V M, Wassif, Christopher A, Gray, James, Burkert, Kathryn R, Smith, David A, Morris, Lauren, Cologna, Stephanie M, Peer, Cody J, Sissung, Tristan M, Uscatu, Constantin-Daniel, Figg, William D, Pavan, William J, Vite, Charles H, Porter, Forbes D, Platt, Frances M

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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5 von Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J, O'Brien, Kevin J, Nicoli, Elena-Raluca, Brooks, Brian P, Huryn, Laryssa, Titus, Steven A, Adams, David R, Chen, Dong, Gahl, William A, Gochuico, Bernadette R, Malicdan, May Christine V

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Autophagy in colorectal cancer:An important switch from physiology to pathology von Burada, Florin, Nicoli, Elena Raluca, Ciurea, Marius Eugen, Uscatu, Daniel Constantin, Ioana, Mihai, Gheonea, Dan Ionut

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Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 von Chen, Oscar C W, Siebel, Stephan, Colaco, Alexandria, Nicoli, Elena-Raluca, Platt, Nick, Shepherd, Dawn, Newman, Stephanie, Armitage, Andrew E, Farhat, Nicole Y, Seligmann, George, Smith, Claire, Smith, David A, Abdul-Sada, Alaa, Jeyakumar, Mylvaganam, Drakesmith, Hal, Porter, Forbes D, Platt, Frances M

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Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C von Nicoli, Elena-Raluca, Huebecker, Mylene, Smith, David, Morris, Lauren, Platt, Frances M.

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Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases von Evans, William R H, Nicoli, Elena-Raluca, Wang, Raymond Y, Movsesyan, Nina, Platt, Frances M

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Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C von Nicoli, Elena-Raluca, Huebecker, Mylene, Smith, David, Morris, Lauren, Platt, Frances M

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Assessing Putative Markers of Colorectal Cancer Stem Cells: From Colonoscopy to Gene Expression Profiling von Harbiyeli, Irina Florina Cherciu, Burtea, Daniela Elena, Ivan, Elena Tatiana, Streață, Ioana, Nicoli, Elena Raluca, Uscatu, Daniel, Șerbănescu, Mircea-Sebastian, Ioana, Mihai, Vilmann, Peter, Săftoiu, Adrian

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Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients von Nicoli, Elena-Raluca, Huebecker, Mylene, Han, Sangwoo T., Garcia, Karolyn, Munasinghe, Jeeva, Lizak, Martin, Latour, Yvonne, Yoon, Robin, Glase, Brianna, Tyrlik, Michal, Peiravi, Morteza, Springer, Danielle, Baker, Eva H., Priestman, David, Sidhu, Rohini, Kell, Pamela, Jiang, Xuntian, Kolstad, Josephine, Kuhn, Anna Luisa, Shazeeb, Mohammed Salman, Acosta, Maria T., Proia, Richard L., Platt, Frances M., Tifft, Cynthia J.

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A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis von Kell, Pamela, Sidhu, Rohini, Qian, Mingxing, Mishra, Sonali, Nicoli, Elena-Raluca, D'Souza, Precilla, Tifft, Cynthia J., Gross, Amanda L., Gray-Edwards, Heather L., Martin, Douglas R., Sena- Esteves, Miguel, Dietzen, Dennis J., Singh, Manmilan, Luo, Jingqin, Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian

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Chediak-Higashi syndrome: A review of the past, present, and future von Sharma, Prashant, Nicoli, Elena-Raluca, Serra-Vinardell, Jenny, Morimoto, Marie, Toro, Camilo, Malicdan, May Christine V., Introne, Wendy J.

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