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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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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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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Albumin Incorporation in Polyethylenimine–DNA Polyplexes Influences Transfection Efficiency von Syga, Marie-Isabel, Nicolì, Elena, Kohler, Esther, Shastri, V. Prasad

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Enhanced gene silencing through human serum albumin-mediated delivery of polyethylenimine-siRNA polyplexes von Nicolì, Elena, Syga, Marie Isabel, Bosetti, Michela, Shastri, V Prasad

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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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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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1F - Pelvic floor dysfunction card: A single-centre analysis von Mella, Veronica, Crescini, Valentina, Clemente, Buonaventura, Pedrocchi, Monica, Nicoli, Elena, Caruso, Orlando

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55 - Perineal card as a tool for early identification of increased perineal risk: Differences in referral indications for pelvic floor rehabilitation von Bosio, Sara, Perossini, Silvia, Nicoli, Elena, Manodoro, Stefano, Bonaccorso, Grazia, Tangi, Amanda, Bonelli, Giulia, Boccuti, Anna Maria, Caruso, Orlando

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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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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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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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Assessing tumor angiogenesis in colorectal cancer by quantitative contrast-enhanced endoscopic ultrasound and molecular and immunohistochemical analysis von Cartana, Elena-Tatiana, Gheonea, Dan, Cherciu, Irina, Streaţa, Ioana, Uscatu, Constantin-Daniel, Nicoli, Elena-Raluca, Ioana, Mihai, Pirici, Daniel, Georgescu, Claudia-Valentina, Alexandru, Dragoş-Ovidiu, Şurlin, Valeriu, Gruionu, Gabriel, Săftoiu, Adrian

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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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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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A rare melanoma feature with primary ovarian origin: a case report and the literature review von Paola, Algeri, Maria, Rota Sonia, Laura, Carlini, Elena, Nicoli, Orlando, Caruso, Teresio, Motta

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42 - Telemedicine application in post-operative care von Tangi, Amanda, Boccuti, Anna Maria, Conzadori, Sara, Bonalumi, Alessandra, Sartorello, Silvia, Donadoni, Michele, Tomaselli, Ivana Rosalinda, Nicoli, Elena, Caruso, Orlando

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Storage of GM2 ganglioside and altered gene expression in infantile Tay-Sachs disease during fetal development has implications for therapeutic timing and efficacy von Han, Sangwoo T., Nicoli, Elena-Raluca, Kono, Mari, Toro, Camilo, Proia, Richard L., Tifft, Cynthia J.

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eP198: EIF3F compound heterozygous genotype-phenotype association von Nicoli, Elena-Raluca, Streaţa, Ioana, Yang, John, Macnamara, Ellen, Wolfe, Lynne, Garcia, Karolyn, Ciurea, Tudorel, Ioana, Mihai, Gahl, William, Tifft, Cynthia, Acosta, Maria, Adams, David

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