Works by Bohl, Delphine

Results: 17
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    Enhanced secretion of the amyotrophic lateral sclerosis ALS-associated misfolded TDP-43 mediated by the ER-ubiquitin specific peptidase USP19.

    Published in:
    Cellular & Molecular Life Sciences, 2025, v. 82, n. 1, p. 1, doi. 10.1007/s00018-025-05589-w
    By:
    • Picard, Flavien;
    • Nonaka, Takashi;
    • Belotti, Edwige;
    • Osseni, Alexis;
    • Errazuriz-Cerda, Elisabeth;
    • Jost-Mousseau, Coline;
    • Bernard, Emilien;
    • Conjard-Duplany, Agnès;
    • Bohl, Delphine;
    • Hasegawa, Masato;
    • Raoul, Cédric;
    • Galli, Thierry;
    • Schaeffer, Laurent;
    • Leblanc, Pascal
    Publication type:
    Article
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    The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 14, p. 2972, doi. 10.1093/hmg/ddw148
    By:
    • Gautier, Clément A.;
    • Erpapazoglou, Zoi;
    • Mouton-Liger, François;
    • Muriel, Marie Paule;
    • Cormier, Florence;
    • Bigou, Stéphanie;
    • Duffaure, Sophie;
    • Girard, Mathilde;
    • Foret, Benjamin;
    • Iannielli, Angelo;
    • Broccoli, Vania;
    • Dalle, Carine;
    • Bohl, Delphine;
    • Michel, Patrick P.;
    • Corvol, Jean-Christophe;
    • Brice, Alexis;
    • Corti, Olga
    Publication type:
    Article
    6

    Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3624, doi. 10.1093/brain/awad228
    By:
    • Bodin, Alexia;
    • Greibill, Logan;
    • Gouju, Julien;
    • Letournel, Franck;
    • Pozzi, Silvia;
    • Julien, Jean-Pierre;
    • Renaud, Laurence;
    • Bohl, Delphine;
    • Millecamps, Stéphanie;
    • Verny, Christophe;
    • Cassereau, Julien;
    • Lenaers, Guy;
    • Chevrollier, Arnaud;
    • Tassin, Anne-Marie;
    • Codron, Philippe
    Publication type:
    Article
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    A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47162-2
    By:
    • Houzelstein, Denis;
    • Eozenou, Caroline;
    • Lagos, Carlos F.;
    • Elzaiat, Maëva;
    • Bignon-Topalovic, Joelle;
    • Gonzalez, Inma;
    • Laville, Vincent;
    • Schlick, Laurène;
    • Wankanit, Somboon;
    • Madon, Prochi;
    • Kirtane, Jyotsna;
    • Athalye, Arundhati;
    • Buonocore, Federica;
    • Bigou, Stéphanie;
    • Conway, Gerard S.;
    • Bohl, Delphine;
    • Achermann, John C.;
    • Bashamboo, Anu;
    • McElreavey, Ken
    Publication type:
    Article
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    14

    MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights.

    Published in:
    Journal of Neurology, 2025, v. 272, n. 4, p. 1, doi. 10.1007/s00415-025-13007-1
    By:
    • De Bertier, Sibylle;
    • Lautrette, Géraldine;
    • Amador, Maria-del-Mar;
    • Miki, Tomoko;
    • Boillée, Séverine;
    • Lobsiger, Christian Stefan;
    • Bohl, Delphine;
    • Darios, Frederic;
    • Machat, Selma;
    • Duchesne, Mathilde;
    • Vourc’h, Patrick;
    • Fauret-Amsellem, Anne-Laure;
    • Corcia, Philippe;
    • Guy, Nathalie;
    • Couratier, Philippe;
    • Seilhean, Danielle;
    • Millecamps, Stéphanie
    Publication type:
    Article
    15

    Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10<sup>S59L/+</sup> mouse.

    Published in:
    Acta Neuropathologica, 2019, v. 138, n. 1, p. 123, doi. 10.1007/s00401-019-01988-z
    By:
    • Genin, Emmanuelle C.;
    • Bannwarth, Sylvie;
    • Fragaki, Konstantina;
    • Mauri-Crouzet, Alessandra;
    • Lespinasse, Françoise;
    • Neveu, Julien;
    • Ropert, Baptiste;
    • Augé, Gaelle;
    • Cochaud, Charlotte;
    • Paquis-Flucklinger, Véronique;
    • Madji Hounoum, Blandine;
    • Ricci, Jean-Ehrland;
    • Lacas-Gervais, Sandra;
    • Lefebvre-Omar, Cynthia;
    • Bigou, Stéphanie;
    • Chiot, Aude;
    • Boillée, Séverine;
    • Lobsiger, Christian S.;
    • Bohl, Delphine;
    • Mochel, Fanny
    Publication type:
    Article
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    Neurofilament accumulations in amyotrophic lateral sclerosis patients’ motor neurons impair axonal initial segment integrity.

    Published in:
    Cellular & Molecular Life Sciences, 2023, v. 80, n. 6, p. 1, doi. 10.1007/s00018-023-04797-6
    By:
    • Lefebvre-Omar, Cynthia;
    • Liu, Elise;
    • Dalle, Carine;
    • d’Incamps, Boris Lamotte;
    • Bigou, Stéphanie;
    • Daube, Clément;
    • Karpf, Léa;
    • Davenne, Marc;
    • Robil, Noémie;
    • Jost Mousseau, Coline;
    • Blanchard, Stéphane;
    • Tournaire, Guillaume;
    • Nicaise, Charles;
    • Salachas, François;
    • Lacomblez, Lucette;
    • Seilhean, Danielle;
    • Lobsiger, Christian S.;
    • Millecamps, Stéphanie;
    • Boillée, Séverine;
    • Bohl, Delphine
    Publication type:
    Article