Search Results - Elena-Raluca Nicoli

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  1. 1

    GM1 Gangliosidosis—A Mini-Review by Elena-Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Cynthia J. Tifft, Karolina M. Stepien, Karolina M. Stepien

    Published in Frontiers in Genetics (2021-09-01)
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  2. 2

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

    Published in Diagnostics (2022-09-01)
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  3. 3

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

    Published in Journal of Lipid Research (2023-12-01)
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  4. 4

    Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved] by David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt

    Published in Wellcome Open Research (2023-04-01)
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  5. 5

    A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype by Sunny Greene, Mackenzie L. Talbert, F. Graeme Frost, Patricia M. Zerfas, Danielle Springer, Audrey Noguchi, Marie Morimoto, Dawn Maynard, Lisa Garrett, Gene Elliot, Maria Traver, David Yarnell, Petcharat Leoyklang, John D. Burke, Elena-Raluca Nicoli, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan

    Published in Communications Biology (2025-07-01)
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  6. 6

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

    Published in EBioMedicine (2023-06-01)
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  7. 7

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

    Published in Frontiers in Genetics (2023-03-01)
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  8. 8

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

    Published in PLoS ONE (2016-01-01)
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