Works matching AU Malicdan, May Christine V.

Results: 53
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    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 69, doi. 10.1002/humu.23345
    By:
    • Malicdan, May Christine V.;
    • Vilboux, Thierry;
    • Ben‐Zeev, Bruria;
    • Guo, Jennifer;
    • Eliyahu, Aviva;
    • Pode‐Shakked, Ben;
    • Dori, Amir;
    • Kakani, Sravan;
    • Chandrasekharappa, Settara C.;
    • Ferreira, Carlos R.;
    • Shelestovich, Natalia;
    • Marek‐Yagel, Dina;
    • Pri‐Chen, Hadass;
    • Blatt, Ilan;
    • Niederhuber, John E.;
    • He, Langping;
    • Toro, Camilo;
    • Taylor, Robert W.;
    • Deeken, John;
    • Yardeni, Tal
    Publication type:
    Article
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    Cover Image, Volume 38, Issue 10.

    Published in:
    Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317
    By:
    • Oprescu, Stephanie N.;
    • Chepa‐Lotrea, Xenia;
    • Takase, Ryuichi;
    • Golas, Gretchen;
    • Markello, Thomas C.;
    • Adams, David R.;
    • Toro, Camilo;
    • Gropman, Andrea L.;
    • Hou, Ya‐Ming;
    • Malicdan, May Christine V.;
    • Gahl, William A.;
    • Tifft, Cynthia J.;
    • Antonellis, Anthony
    Publication type:
    Article
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    Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

    Published in:
    Human Mutation, 2014, v. 35, n. 8, p. 915, doi. 10.1002/humu.22583
    By:
    • Celeste, Frank V.;
    • Vilboux, Thierry;
    • Ciccone, Carla;
    • Dios, John Karl;
    • Malicdan, May Christine V.;
    • Leoyklang, Petcharat;
    • McKew, John C.;
    • Gahl, William A.;
    • Carrillo‐Carrasco, Nuria;
    • Huizing, Marjan
    Publication type:
    Article
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    Autophagy in Lysosomal Myopathies.

    Published in:
    Brain Pathology, 2012, v. 22, n. 1, p. 82, doi. 10.1111/j.1750-3639.2011.00543.x
    By:
    • Malicdan, May Christine V.;
    • Nishino, Ichizo
    Publication type:
    Article
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    Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

    Published in:
    2020
    By:
    • Blanco-Sánchez, Bernardo;
    • Clément, Aurélie;
    • Stednitz, Sarah J.;
    • Kyle, Jennifer;
    • Peirce, Judy L.;
    • McFadden, Marcie;
    • Wegner, Jeremy;
    • Phillips, Jennifer B.;
    • Macnamara, Ellen;
    • Huang, Yan;
    • Adams, David R.;
    • Toro, Camilo;
    • Gahl, William A.;
    • Malicdan, May Christine V.;
    • Tifft, Cynthia J.;
    • Zink, Erika M.;
    • Bloodsworth, Kent J.;
    • Stratton, Kelly G.;
    • Koeller, David M.;
    • Metz, Thomas O.
    Publication type:
    Correction Notice
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    yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 6, p. 1, doi. 10.1371/journal.pgen.1008841
    By:
    • Blanco-Sánchez, Bernardo;
    • Clément, Aurélie;
    • Stednitz, Sara J.;
    • Kyle, Jennifer;
    • Peirce, Judy L.;
    • McFadden, Marcie;
    • Wegner, Jeremy;
    • Phillips, Jennifer B.;
    • Macnamara, Ellen;
    • Huang, Yan;
    • Adams, David R.;
    • Toro, Camilo;
    • Gahl, William A.;
    • Malicdan, May Christine V.;
    • Tifft, Cynthia J.;
    • Zink, Erika M.;
    • Bloodsworth, Kent J.;
    • Stratton, Kelly G.;
    • Koeller, David M.;
    • Metz, Thomas O.
    Publication type:
    Article
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    CB<sub>1</sub>R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome.

    Published in:
    Clinical & Translational Medicine, 2021, v. 11, n. 7, p. 1, doi. 10.1002/ctm2.471
    By:
    • Cinar, Resat;
    • Park, Joshua K.;
    • Zawatsky, Charles N.;
    • Coffey, Nathan J.;
    • Bodine, Steven P.;
    • Abdalla, Jasmina;
    • Yokoyama, Tadafumi;
    • Jourdan, Tony;
    • Jay, Lindsey;
    • Zuo, Mei Xing G.;
    • O'Brien, Kevin J.;
    • Huang, Junfeng;
    • Mackie, Ken;
    • Alimardanov, Asaf;
    • Iyer, Malliga R.;
    • Gahl, William A.;
    • Kunos, George;
    • Gochuico, Bernadette R.;
    • Malicdan, May Christine V.
    Publication type:
    Article
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    A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 691, doi. 10.1093/hmg/ddx435
    By:
    • Toro, Camilo;
    • Hori, Roderick T.;
    • Malicdan, May Christine V.;
    • Tifft, Cynthia J.;
    • Goldstein, Amy;
    • Gahl, William A.;
    • Adams, David R.;
    • Harper, Fauni;
    • Wolfe, Lynne A.;
    • Jianfeng Xiao;
    • Khan, Mohammad M.;
    • Tian, Jun;
    • Hope, Kevin A.;
    • Reiter, Lawrence T.;
    • Tremblay, Michel G.;
    • Moss, Tom;
    • Franks, Alexis L.;
    • Balak, Chris;
    • LeDoux, Mark S.
    Publication type:
    Article
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    Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2819, doi. 10.1002/ajmg.a.40514
    By:
    • Han, Chen G.;
    • O'Brien, Kevin J.;
    • Coon, Lea M.;
    • Majerus, Julie A.;
    • Huryn, Laryssa A.;
    • Haroutunian, Sara G.;
    • Moka, Nagabhishek;
    • Introne, Wendy J.;
    • Macnamara, Ellen;
    • Gahl, William A.;
    • Malicdan, May Christine V.;
    • Chen, Dong;
    • Krishnan, Koyamangalath;
    • Gochuico, Bernadette R.
    Publication type:
    Article
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    Cover Image, Volume 173A, Number 12, December 2017.

    Published in:
    2017
    By:
    • Hardee, Isabel;
    • Soldatos, Ariane;
    • Davids, Mariska;
    • Vilboux, Thierry;
    • Toro, Camilo;
    • David, Karen L.;
    • Ferreira, Carlos R.;
    • Nehrebecky, Michele;
    • Snow, Joseph;
    • Thurm, Audrey;
    • Heller, Theo;
    • Macnamara, Ellen F.;
    • Gunay‐Aygun, Meral;
    • Zein, Wadih M.;
    • Gahl, William A.;
    • Malicdan, May Christine V.
    Publication type:
    Other
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    Defective ciliogenesis in INPP5E-related Joubert syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3231, doi. 10.1002/ajmg.a.38376
    By:
    • Hardee, Isabel;
    • Soldatos, Ariane;
    • Davids, Mariska;
    • Vilboux, Thierry;
    • Toro, Camilo;
    • David, Karen L.;
    • Ferreira, Carlos R.;
    • Nehrebecky, Michele;
    • Snow, Joseph;
    • Thurm, Audrey;
    • Heller, Theo;
    • Macnamara, Ellen F.;
    • Gunay‐Aygun, Meral;
    • Zein, Wadih M.;
    • Gahl, William A.;
    • Malicdan, May Christine V.
    Publication type:
    Article
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    CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
    By:
    • Vilboux, Thierry;
    • Malicdan, May Christine V.;
    • Roney, Joseph C.;
    • Cullinane, Andrew R.;
    • Stephen, Joshi;
    • Yildirimli, Deniz;
    • Bryant, Joy;
    • Fischer, Roxanne;
    • Vemulapalli, Meghana;
    • Mullikin, James C.;
    • Steinbach, Peter J.;
    • Gahl, William A.;
    • Gunay‐Aygun, Meral
    Publication type:
    Article
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    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

    Published in:
    2017
    By:
    • Barel, Ortal;
    • Malicdan, May Christine V.;
    • Ben-Zeev, Bruria;
    • Kandel, Judith;
    • Pri-Chen, Hadass;
    • Stephen, Joshi;
    • Castro, Inês G.;
    • Metz, Jeremy;
    • Atawa, Osama;
    • Moshkovitz, Sharon;
    • Ganelin, Eti;
    • Barshack, Iris;
    • Polak-Charcon, Sylvie;
    • Nass, Dvora;
    • Marek-Yagel, Dina;
    • Amariglio, Ninette;
    • Shalva, Nechama;
    • Vilboux, Thierry;
    • Ferreira, Carlos;
    • Pode-Shakked, Ben
    Publication type:
    journal article
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    ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 2, p. 1, doi. 10.1371/journal.pgen.1006481
    By:
    • Zhang, Yihan;
    • Huang, Haigen;
    • Zhao, Gexin;
    • Yokoyama, Tadafumi;
    • Vega, Hugo;
    • Huang, Yan;
    • Sood, Raman;
    • Bishop, Kevin;
    • Maduro, Valerie;
    • Accardi, John;
    • Toro, Camilo;
    • Boerkoel, Cornelius F.;
    • Lyons, Karen;
    • Gahl, William A.;
    • Duan, Xiaohong;
    • Malicdan, May Christine V.;
    • Lin, Shuo
    Publication type:
    Article
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    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
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    Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
    By:
    • Chong Li;
    • Brazill, Jennifer M.;
    • Sha Liu;
    • Bello, Christofer;
    • Yi Zhu;
    • Morimoto, Marie;
    • Cascio, Lauren;
    • Pauly, Rini;
    • Diaz-Perez, Zoraida;
    • Malicdan, May Christine V.;
    • Hongbo Wang;
    • Boccuto, Luigi;
    • Schwartz, Charles E.;
    • Gahl, William A.;
    • Boerkoel, Cornelius F.;
    • Zhai, R. Grace
    Publication type:
    Article
    37

    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
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    Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.

    Published in:
    2022
    By:
    • Abudi-Sinreich, Shachar;
    • Bodine, Steven P.;
    • Yokoyama, Tadafumi;
    • Tolman, Nathanial J.;
    • Tyrlik, Michal;
    • Testa, Lauren C.;
    • Han, Chen G.;
    • Dorward, Heidi M.;
    • Wincovitch, Stephen M.;
    • Anikster, Yair;
    • Gahl, William A.;
    • Cinar, Resat;
    • Gochuico, Bernadette R.;
    • Malicdan, May Christine V.
    Publication type:
    journal article
    40

    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
    41

    Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300
    By:
    • Garland, Jennifer;
    • Stephen, Joshi;
    • Class, Bradley;
    • Gruber, Angela;
    • Ciccone, Carla;
    • Poliak, Aaron;
    • Hayes, Christina P.;
    • Singhal, Vandana;
    • Slota, Christina;
    • Perreault, John;
    • Gavrilova, Ralitza;
    • Shrader, Joseph A.;
    • Chittiboina, Prashant;
    • Joe, Galen;
    • Heiss, John;
    • Gahl, William A.;
    • Huizing, Marjan;
    • Carrillo, Nuria;
    • Malicdan, May Christine V.
    Publication type:
    Article
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    Clinical and genetic analysis of lipid storage myopathies.

    Published in:
    Muscle & Nerve, 2009, v. 39, n. 3, p. 333, doi. 10.1002/mus.21167
    By:
    • Ohkuma, Aya;
    • Noguchi, Satoru;
    • Sugie, Hideo;
    • Malicdan, May Christine V.;
    • Fukuda, Tokiko;
    • Shimazu, Kunio;
    • López, Luis Carlos;
    • Hirano, Michio;
    • Hayashi, Yukiko K.;
    • Nonaka, Ikuya;
    • Nishino, Ichizo
    Publication type:
    Article
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    Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.

    Published in:
    American Journal of Respiratory & Critical Care Medicine, 2025, v. 211, n. 4, p. 650, doi. 10.1164/rccm.202406-1143RL
    By:
    • Cinar, Resat;
    • Basu, Abhishek;
    • Arif, Muhammad;
    • Park, Joshua K.;
    • Zawatsky, Charles N.;
    • Zuo, Ben Long G.;
    • Zuo, Mei Xing G.;
    • O'Brien, Kevin J.;
    • Behan, Molly;
    • Introne, Wendy;
    • Iyer, Malliga R.;
    • Gahl, William A.;
    • Malicdan, May Christine V.;
    • Gochuico, Bernadette R.
    Publication type:
    Article
    47

    Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells.

    Published in:
    Nature Methods, 2015, v. 12, n. 9, p. 885, doi. 10.1038/nmeth.3507
    By:
    • Paull, Daniel;
    • Sevilla, Ana;
    • Zhou, Hongyan;
    • Hahn, Aana Kim;
    • Kim, Hesed;
    • Napolitano, Christopher;
    • Tsankov, Alexander;
    • Shang, Linshan;
    • Krumholz, Katie;
    • Jagadeesan, Premlatha;
    • Woodard, Chris M;
    • Sun, Bruce;
    • Vilboux, Thierry;
    • Zimmer, Matthew;
    • Forero, Eliana;
    • Moroziewicz, Dorota N;
    • Martinez, Hector;
    • Malicdan, May Christine V;
    • Weiss, Keren A;
    • Vensand, Lauren B
    Publication type:
    Article
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