Works matching AU Bachmann-Gagescu, Ruxandra

Results: 19
    1

    Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

    Published in:
    Human Molecular Genetics, 2020, v. 29, n. 7, p. 1132, doi. 10.1093/hmg/ddaa032
    By:
    • Ansar, Muhammad;
    • Ebstein, Frédéric;
    • Özkoç, Hayriye;
    • Paracha, Sohail A.;
    • Iwaszkiewicz, Justyna;
    • Gesemann, Matthias;
    • Zoete, Vincent;
    • Ranza, Emmanuelle;
    • Santoni, Federico A.;
    • Sarwar, Muhammad T.;
    • Ahmed, Jawad;
    • Krüger, Elke;
    • Bachmann-Gagescu, Ruxandra;
    • Antonarakis, Stylianos E.
    Publication type:
    Article
    2

    Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction.

    Published in:
    eLife, 2024, p. 1, doi. 10.7554/eLife.96831
    By:
    • Djebar, Morgane;
    • Anselme, Isabelle;
    • Pezeron, Guillaume;
    • Bardet, Pierre-Luc;
    • Cantaut-Belarif, Yasmine;
    • Eschstruth, Alexis;
    • López-Santos, Diego;
    • Le Ribeuz, Hélène;
    • Jenett, Arnim;
    • Khoury, Hanane;
    • Veziers, Joelle;
    • Parmentier, Caroline;
    • Hirschler, Aurélie;
    • Carapito, Christine;
    • Bachmann-Gagescu, Ruxandra;
    • Schneider-Maunoury, Sylvie;
    • Vesque, Christine
    Publication type:
    Article
    3

    Healthcare recommendations for Joubert syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 229, doi. 10.1002/ajmg.a.61399
    By:
    • Bachmann‐Gagescu, Ruxandra;
    • Dempsey, Jennifer C.;
    • Bulgheroni, Sara;
    • Chen, Maida L.;
    • D'Arrigo, Stefano;
    • Glass, Ian A.;
    • Heller, Theo;
    • Héon, Elise;
    • Hildebrandt, Friedhelm;
    • Joshi, Nirmal;
    • Knutzen, Dana;
    • Kroes, Hester Y.;
    • Mack, Stephen H.;
    • Nuovo, Sara;
    • Parisi, Melissa A.;
    • Snow, Joseph;
    • Summers, Angela C.;
    • Symons, Jordan M.;
    • Zein, Wadih M.;
    • Boltshauser, Eugen
    Publication type:
    Article
    4

    Mortality in Joubert syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1237, doi. 10.1002/ajmg.a.38158
    By:
    • Dempsey, Jennifer C.;
    • Phelps, Ian G.;
    • Bachmann‐Gagescu, Ruxandra;
    • Glass, Ian A.;
    • Tully, Hannah M.;
    • Doherty, Dan
    Publication type:
    Article
    5

    KIAA0586 is Mutated in Joubert Syndrome.

    Published in:
    Human Mutation, 2015, v. 36, n. 9, p. 831, doi. 10.1002/humu.22821
    By:
    • Bachmann‐Gagescu, Ruxandra;
    • Phelps, Ian G.;
    • Dempsey, Jennifer C.;
    • Sharma, Vivek A.;
    • Ishak, Gisele E.;
    • Boyle, Evan A.;
    • Wilson, Meredith;
    • Marques Lourenço, Charles;
    • Arslan, Mutluay;
    • Shendure, Jay;
    • Doherty, Dan
    Publication type:
    Article
    6
    7
    8
    9
    10
    11
    12
    13
    14

    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

    Published in:
    Molecular Medicine, 2019, v. 25, n. 1, p. N.PAG, doi. 10.1186/s10020-019-0073-6
    By:
    • Begemann, Anaïs;
    • Acuña, Mario A.;
    • Zweier, Markus;
    • Vincent, Marie;
    • Steindl, Katharina;
    • Bachmann-Gagescu, Ruxandra;
    • Hackenberg, Annette;
    • Abela, Lucia;
    • Plecko, Barbara;
    • Kroell-Seger, Judith;
    • Baumer, Alessandra;
    • Yamakawa, Kazuhiro;
    • Inoue, Yushi;
    • Asadollahi, Reza;
    • Sticht, Heinrich;
    • Zeilhofer, Hanns Ulrich;
    • Rauch, Anita
    Publication type:
    Article
    15

    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

    Published in:
    PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005575
    By:
    • Bachmann-Gagescu, Ruxandra;
    • Dona, Margo;
    • Hetterschijt, Lisette;
    • Tonnaer, Edith;
    • Peters, Theo;
    • de Vrieze, Erik;
    • Mans, Dorus A.;
    • van Beersum, Sylvia E. C.;
    • Phelps, Ian G.;
    • Arts, Heleen H.;
    • Keunen, Jan E.;
    • Ueffing, Marius;
    • Roepman, Ronald;
    • Boldt, Karsten;
    • Doherty, Dan;
    • Moens, Cecilia B.;
    • Neuhauss, Stephan C. F.;
    • Kremer, Hannie;
    • van Wijk, Erwin
    Publication type:
    Article
    16

    NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.

    Published in:
    PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005574
    By:
    • Dona, Margo;
    • Bachmann-Gagescu, Ruxandra;
    • Texier, Yves;
    • Toedt, Grischa;
    • Hetterschijt, Lisette;
    • Tonnaer, Edith L.;
    • Peters, Theo A.;
    • van Beersum, Sylvia E. C.;
    • Bergboer, Judith G. M.;
    • Horn, Nicola;
    • de Vrieze, Erik;
    • Slijkerman, Ralph W. N.;
    • van Reeuwijk, Jeroen;
    • Flik, Gert;
    • Keunen, Jan E.;
    • Ueffing, Marius;
    • Gibson, Toby J.;
    • Roepman, Ronald;
    • Boldt, Karsten;
    • Kremer, Hannie
    Publication type:
    Article
    17

    Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

    Published in:
    Annals of Neurology, 2025, v. 97, n. 1, p. 76, doi. 10.1002/ana.27077
    By:
    • Blackburn, Patrick R.;
    • Ebstein, Frédéric;
    • Hsieh, Tzung‐Chien;
    • Motta, Marialetizia;
    • Radio, Francesca Clementina;
    • Herkert, Johanna C.;
    • Rinne, Tuula;
    • Thiffault, Isabelle;
    • Rapp, Michele;
    • Alders, Mariel;
    • Maas, Saskia;
    • Gerard, Bénédicte;
    • Smol, Thomas;
    • Vincent‐Delorme, Catherine;
    • Cogné, Benjamin;
    • Isidor, Bertrand;
    • Vincent, Marie;
    • Bachmann‐Gagescu, Ruxandra;
    • Rauch, Anita;
    • Joset, Pascal
    Publication type:
    Article
    18
    19