Found: 13

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  • GM1 Gangliosidosis—A Mini-Review.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734878
    By:
    • Nicoli, Elena-Raluca;
    • Annunziata, Ida;
    • d'Azzo, Alessandra;
    • Platt, Frances M.;
    • Tifft, Cynthia J.;
    • Stepien, Karolina M.
    Publication type:
    Article

  • The influence of irradiation on autophagy process in normal and malignant colorectal epithelia.

    Published in:
    Romanian Journal of Morphology & Embryology, 2016, v. 57, n. 1, p. 227
    By:
    • USCATU, CONSTANTIN DANIEL;
    • MIXICH, FRANCISC;
    • DUMITRESCU, THEODOR VIOREL;
    • NICOLI, ELENA-RALUCA;
    • DELIU, IONELA CRISTINA;
    • MAN, GEORGE MIHAIL;
    • PLEŞEA, IANCU EMIL
    Publication type:
    Article

  • Preliminary study of correlations between the intratumoral microvessel density and the morphological profile of colorectal carcinoma.

    Published in:
    Romanian Journal of Morphology & Embryology, 2015, v. 56, p. 679
    By:
    • DUMITRESCU, THEODOR VIOREL;
    • USCATU, CONSTANTIN DANIEL;
    • MOGOANTĂ, STELIAN ŞTEFĂNIȚĂ;
    • ALEXANDRU, DRAGOŞ OVIDIU;
    • DUMITRESCU, ALEXANDRA;
    • SCHENKER, MICHAEL;
    • MEŞINĂ, CRISTIAN;
    • NICOLI, ELENA-RALUCA;
    • GHEONEA, DAN IONUȚ;
    • VASILE, MANUELA;
    • PLEŞEA, IANCU EMIL
    Publication type:
    Article

  • Determination of autophagy gene ATG16L1 polymorphism in human colorectal cancer.

    Published in:
    Romanian Journal of Morphology & Embryology, 2014, v. 55, n. 1, p. 57
    By:
    • NICOLI, ELENA-RALUCA;
    • DUMITRESCU, THEODOR;
    • USCATU, CONSTANTIN-DANIEL;
    • POPESCU, FLORIN-DAN;
    • STREATA, IOANA;
    • SOSOI, SIMONA SERBAN;
    • IVANOV, PETAR;
    • DUMITRESCU, ALEXANDRA;
    • BARBALAN, ALEXANDRU;
    • LUNGULESCU, DAN;
    • PETRESCU, FLORIN;
    • SCHENKER, MICHAEL;
    • VERDES, DOINA;
    • SAFTOIU, ADRIAN
    Publication type:
    Article

  • Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.

    Published in:
    PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227829
    By:
    • Cawley, Niamh X.;
    • Sojka, Caitlin;
    • Cougnoux, Antony;
    • Lyons, Anna T.;
    • Nicoli, Elena‐Raluca;
    • Wassif, Christopher A.;
    • Porter, Forbes D.
    Publication type:
    Article

  • Gene expression changes in Tay–Sachs disease begin early in fetal brain development.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 687, doi. 10.1002/jimd.12596
    By:
    • Han, Sangwoo T.;
    • Hirt, Ashley;
    • Nicoli, Elena‐Raluca;
    • Kono, Mari;
    • Toro, Camilo;
    • Proia, Richard L.;
    • Tifft, Cynthia J.
    Publication type:
    Article

  • Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 907, doi. 10.1002/jimd.12506
    By:
    • 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.
    Publication type:
    Article

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

    Published in:
    PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152007
    By:
    • 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.
    Publication type:
    Article

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

    Published in:
    Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2280, doi. 10.3390/diagnostics12102280
    By:
    • 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
    Publication type:
    Article

  • Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

    Published in:
    FEBS Letters, 2016, v. 590, n. 11, p. 1651, doi. 10.1002/1873-3468.12196
    By:
    • Mazzacuva, Francesca;
    • Mills, Philippa;
    • Mills, Kevin;
    • Camuzeaux, Stephane;
    • Gissen, Paul;
    • Nicoli, Elena-Raluca;
    • Wassif, Christopher;
    • te Vruchte, Danielle;
    • Porter, Forbes D.;
    • Masamitsu Maekawa;
    • Nariyasu Mano;
    • Takashi lida;
    • Platt, Frances;
    • Clayton, Peter T.
    Publication type:
    Article

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

    Published in:
    Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784
    By:
    • 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.
    Publication type:
    Article

  • IDH1 mutations induce organelle defects via dysregulated phospholipids.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20752-6
    By:
    • 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
    Publication type:
    Article

  • Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

    Published in:
    PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173682
    By:
    • 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.
    Publication type:
    Article