Hasil Pencarian - Elena-Raluca Nicoli

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  1. 1
    Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C [version 1; referees: 2 approved, 1 not approved]

    Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C [version 1; referees: 2 approved, 1 not approved] oleh Elena-Raluca Nicoli, David Smith, Lauren Morris, Frances M. Platt

    Diterbitkan 2017-08-01
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  2. 2
    Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C [version 2; referees: 2 approved, 1 not approved]

    Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C [version 2; referees: 2 approved, 1 not approved] oleh Elena-Raluca Nicoli, Mylene Huebecker, David Smith, Lauren Morris, Frances M. Platt

    Diterbitkan 2018-04-01
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  3. 3
    Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases [version 1; referees: 2 approved]

    Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases [version 1; referees: 2 approved] oleh William R.H. Evans, Elena-Raluca Nicoli, Raymond Y. Wang, Nina Movsesyan, Frances M. Platt

    Diterbitkan 2017-08-01
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  4. 4
    Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.

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

    Diterbitkan 2020-01-01
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  5. 5
    GM1 Gangliosidosis—A Mini-Review

    GM1 Gangliosidosis—A Mini-Review oleh 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

    Diterbitkan 2021-09-01
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  6. 6
    Assessing Putative Markers of Colorectal Cancer Stem Cells: From Colonoscopy to Gene Expression Profiling

    Assessing Putative Markers of Colorectal Cancer Stem Cells: From Colonoscopy to Gene Expression Profiling oleh 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

    Diterbitkan 2022-09-01
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  7. 7
    NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

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

    Diterbitkan 2017-07-01
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  8. 8
    Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

    Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis oleh 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

    Diterbitkan 2023-12-01
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  9. 9
    Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

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

    Diterbitkan 2017-01-01
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  10. 10
    Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved]

    Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved] oleh 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

    Diterbitkan 2023-04-01
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  11. 11
    A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context

    A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context oleh 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

    Diterbitkan 2023-06-01
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  12. 12
    IDH1 mutations induce organelle defects via dysregulated phospholipids

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

    Diterbitkan 2021-01-01
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  13. 13
    cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

    cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome oleh 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

    Diterbitkan 2023-03-01
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  14. 14
    Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.

    Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease. oleh 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

    Diterbitkan 2016-01-01
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