Works matching AU Kousi, Maria

Results: 9
    1

    Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5.

    Published in:
    Human Mutation, 2019, v. 40, n. 9, p. 1474, doi. 10.1002/humu.23856
    By:
    • Monzon, Alexander Miguel;
    • Carraro, Marco;
    • Chiricosta, Luigi;
    • Reggiani, Francesco;
    • Han, James;
    • Ozturk, Kivilcim;
    • Wang, Yanran;
    • Miller, Maximilian;
    • Bromberg, Yana;
    • Capriotti, Emidio;
    • Savojardo, Castrense;
    • Babbi, Giulia;
    • Martelli, Pier L.;
    • Casadio, Rita;
    • Katsonis, Panagiotis;
    • Lichtarge, Olivier;
    • Carter, Hannah;
    • Kousi, Maria;
    • Katsanis, Nicholas;
    • Andreoletti, Gaia
    Publication type:
    Article
    2
    3

    Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 20, p. 5677, doi. 10.1093/hmg/ddv281
    By:
    • Hyun Hor;
    • Francescatto, Ludmila;
    • Bartesaghi, Luca;
    • Ortega-Cubero, Sara;
    • Kousi, Maria;
    • Lorenzo-Betancor, Oswaldo;
    • Jiménez-Jiménez, Felix J.;
    • Gironell, Alexandre;
    • Clarimón, Jordi;
    • Drechsel, Oliver;
    • Agúndez, José A. G.;
    • Kenzelmann Broz, Daniela;
    • Chiquet-Ehrismann, Ruth;
    • Lleó, Alberto;
    • Coria, Francisco;
    • García-Martin, Elena;
    • Alonso-Navarro, Hortensia;
    • Martí, Maria J.;
    • Kulisevsky, Jaume;
    • Hor, Charlotte N.
    Publication type:
    Article
    4

    ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

    Published in:
    Brain: A Journal of Neurology, 2017, v. 140, n. 5, p. 1267, doi. 10.1093/brain/awx040
    By:
    • Anttonen, Anna-Kaisa;
    • Laari, Anni;
    • Kousi, Maria;
    • Yang, Yawei J.;
    • Jääskeläinen, Tiina;
    • Somer, Mirja;
    • Siintola, Eija;
    • Jakkula, Eveliina;
    • Muona, Mikko;
    • Tegelberg, Saara;
    • nnqvist, Tuula Lö;
    • Pihko, Helena;
    • Valanne, Leena;
    • Paetau, Anders;
    • Lun, Melody P.;
    • Hästbacka, Johanna;
    • Kopra, Outi;
    • Joensuu, Tarja;
    • Katsanis, Nicholas;
    • Lehtinen, Maria K.
    Publication type:
    Article
    5
    6
    7

    PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-19637-5
    By:
    • Monroe, Tanner O.;
    • Garrett, Melanie E.;
    • Kousi, Maria;
    • Rodriguiz, Ramona M.;
    • Moon, Sungjin;
    • Bai, Yushi;
    • Brodar, Steven C.;
    • Soldano, Karen L.;
    • Savage, Jeremiah;
    • Hansen, Thomas F.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Barak, Lawrence;
    • Sullivan, Patrick F.;
    • Ashley-Koch, Allison E.;
    • Sawa, Akira;
    • Wetsel, William C.;
    • Werge, Thomas;
    • Katsanis, Nicholas
    Publication type:
    Article
    8
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