Works matching AU Mai, Nguyen Thi Tuyet

Results: 52
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    Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
    By:
    • Efthymiou, Stephanie;
    • Dutra‐Clarke, Marina;
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Reza Alvi, Javeria;
    • Sultan, Tipu;
    • Christoforou, Marilena;
    • Tuyet Mai Nguyen, Thi;
    • Mankad, Kshitij;
    • Vona, Barbara;
    • Rad, Aboulfazl;
    • Striano, Pasquale;
    • Salpietro, Vincenzo;
    • Guillen Sacoto, Maria J.;
    • Zaki, Maha S.;
    • Gleeson, Joseph G.;
    • Campeau, Philippe M.;
    • Russell, Bianca E.;
    • Houlden, Henry
    Publication type:
    Article
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    Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 5, p. 607, doi. 10.1111/cge.14033
    By:
    • Salian, Smrithi;
    • Scala, Marcello;
    • Nguyen, Thi Tuyet Mai;
    • Severino, Mariasavina;
    • Accogli, Andrea;
    • Amadori, Elisabetta;
    • Torella, Annalaura;
    • Pinelli, Michele;
    • Hudson, Beth;
    • Boothe, Megan;
    • Hurst, Anna;
    • Ben‐Omran, Tawfeg;
    • Larsen, Martin J.;
    • Fagerberg, Christina R.;
    • Sperling, Lene;
    • Miceikaite, Ieva;
    • Herissant, Lucas;
    • Doco‐Fenzy, Martine;
    • Jennesson, Mélanie;
    • Nigro, Vincenzo
    Publication type:
    Article
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    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
    By:
    • Kortüm, Fanny;
    • Kutsche, Kerstin;
    • Korenke, Georg Christoph;
    • Leuzzi, Vincenzo;
    • Mowat, David;
    • Nair, Lal D V;
    • Nguyen, Thi Tuyet Mai;
    • Thierry, Patrick;
    • White, Susan M;
    • Campeau, Philippe M;
    • Tartaglia, Marco;
    • Caputo, Viviana;
    • Pizzuti, Antonio;
    • Bauer, Christiane K;
    • Stella, Lorenzo;
    • Bocchinfuso, Gianfranco;
    • Ciolfi, Andrea;
    • Flex, Elisabetta;
    • Alawi, Malik;
    • Paolacci, Stefano
    Publication type:
    Article
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    Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
    By:
    • Johnstone, Devon L.;
    • Nguyen, Thi Tuyet Mai;
    • Zambonin, Jessica;
    • Kernohan, Kristin D.;
    • St‐Denis, Anik;
    • Baratang, Nissan V.;
    • Hartley, Taila;
    • Geraghty, Michael T.;
    • Richer, Julie;
    • Majewski, Jacek;
    • Bareke, Eric;
    • Guerin, Andrea;
    • Pendziwiat, Manuela;
    • Pena, Loren D. M.;
    • Braakman, Hilde M. H.;
    • Gripp, Karen W.;
    • Edmondson, Andrew C.;
    • He, Miao;
    • Spillmann, Rebecca C.;
    • Eklund, Erik A.
    Publication type:
    Article
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    PIGF deficiency causes a phenotype overlapping with DOORS syndrome.

    Published in:
    Human Genetics, 2021, v. 140, n. 6, p. 879, doi. 10.1007/s00439-020-02251-2
    By:
    • Salian, Smrithi;
    • Benkerroum, Hind;
    • Nguyen, Thi Tuyet Mai;
    • Nampoothiri, Sheela;
    • Kinoshita, Taroh;
    • Félix, Têmis Maria;
    • Stewart, Fiona;
    • Sisodiya, Sanjay M.;
    • Murakami, Yoshiko;
    • Campeau, Philippe M.
    Publication type:
    Article
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    Executive Summaries.

    Published in:
    2003
    By:
    • Tuyet Mai, Nguyen Thi;
    • Jung, Kwon;
    • Lantz, Garold;
    • Loeb, Sandra G.;
    • Zhou, Lianxi;
    • Hui, Michael K.;
    • Lin, Xiaohua;
    • Germain, Richard;
    • Han, C. Min;
    • Kim, Jung Min;
    • Simmons, Lee C.;
    • Schindler, Robert M.
    Publication type:
    Abstract
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    Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1706, doi. 10.1093/hmg/ddx077
    By:
    • Johnstone, Devon L.;
    • Nguyen, Thi-Tuyet-Mai;
    • Yoshiko Murakami;
    • Kernohan, Kristin D.;
    • Tétreault, Martine;
    • Goldsmith, Claire;
    • Doja, Asif;
    • Wagner, Justin D.;
    • Huang, Lijia;
    • Hartley, Taila;
    • St-Denis, Anik;
    • le Deist, Françoise;
    • Majewski, Jacek;
    • Bulman, Dennis E.;
    • Taroh Kinoshita;
    • Dyment, David A.;
    • Boycott, Kym M.;
    • Campeau, Philippe M.
    Publication type:
    Article
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