Works matching IS 00016322 AND DT 2023 AND VI 145 AND IP 1


Results: 13
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    2

    Identification of low and very high-risk patients with non-WNT/non-SHH medulloblastoma by improved clinico-molecular stratification of the HIT2000 and I-HIT-MED cohorts.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 1, p. 97, doi. 10.1007/s00401-022-02522-4
    By:
    • Mynarek, Martin;
    • Obrecht, Denise;
    • Sill, Martin;
    • Sturm, Dominik;
    • Kloth-Stachnau, Katja;
    • Selt, Florian;
    • Ecker, Jonas;
    • von Hoff, Katja;
    • Juhnke, Björn-Ole;
    • Goschzik, Tobias;
    • Pietsch, Torsten;
    • Bockmayr, Michael;
    • Kool, Marcel;
    • von Deimling, Andreas;
    • Witt, Olaf;
    • Schüller, Ulrich;
    • Benesch, Martin;
    • Gerber, Nicolas U.;
    • Sahm, Felix;
    • Jones, David T. W.
    Publication type:
    Article
    3

    Tuberous sclerosis complex is associated with a novel human tauopathy.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 1, p. 1, doi. 10.1007/s00401-022-02521-5
    By:
    • Hwang, Ji-Hye L.;
    • Perloff, Olga S.;
    • Gaus, Stephanie E.;
    • Benitez, Camila;
    • Alquezar, Carolina;
    • Cosme, Celica Q.;
    • Nana, Alissa L.;
    • Vatsavayai, Sarat C.;
    • Ramos, Eliana M.;
    • Geschwind, Daniel H.;
    • Miller, Bruce L.;
    • Kao, Aimee W.;
    • Seeley, William W.
    Publication type:
    Article
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    7

    Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 1, p. 49, doi. 10.1007/s00401-022-02516-2
    By:
    • Keck, Michaela-Kristina;
    • Sill, Martin;
    • Wittmann, Andrea;
    • Joshi, Piyush;
    • Stichel, Damian;
    • Beck, Pengbo;
    • Okonechnikow, Konstantin;
    • Sievers, Philipp;
    • Wefers, Annika K.;
    • Roncaroli, Federico;
    • Avula, Shivaram;
    • McCabe, Martin G.;
    • Hayden, James T.;
    • Wesseling, Pieter;
    • Øra, Ingrid;
    • Nistér, Monica;
    • Kranendonk, Mariëtte E. G.;
    • Tops, Bastiaan B. J.;
    • Zapotocky, Michal;
    • Zamecnik, Josef
    Publication type:
    Article
    8
    9

    Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 1, p. 83, doi. 10.1007/s00401-022-02512-6
    By:
    • Métais, Alice;
    • Bouchoucha, Yassine;
    • Kergrohen, Thomas;
    • Dangouloff-Ros, Volodia;
    • Maynadier, Xavier;
    • Ajlil, Yassine;
    • Carton, Matthieu;
    • Yacoub, Wael;
    • Saffroy, Raphael;
    • Figarella-Branger, Dominique;
    • Uro-Coste, Emmanuelle;
    • Sevely, Annick;
    • Larrieu-Ciron, Delphine;
    • Faisant, Maxime;
    • Machet, Marie-Christine;
    • Wahler, Ellen;
    • Roux, Alexandre;
    • Benichi, Sandro;
    • Beccaria, Kevin;
    • Blauwblomme, Thomas
    Publication type:
    Article
    10
    11

    Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 1, p. 127, doi. 10.1007/s00401-022-02510-8
    By:
    • Weihl, Conrad C.;
    • Töpf, Ana;
    • Bengoechea, Rocio;
    • Duff, Jennifer;
    • Charlton, Richard;
    • Garcia, Solange Kapetanovic;
    • Domínguez-González, Cristina;
    • Alsaman, Abdulaziz;
    • Hernández-Laín, Aurelio;
    • Franco, Luis Varona;
    • Sanchez, Monica Elizabeth Ponce;
    • Beecroft, Sarah J.;
    • Goullee, Hayley;
    • Daw, Jil;
    • Bhadra, Ankan;
    • True, Heather;
    • Inoue, Michio;
    • Findlay, Andrew R.;
    • Laing, Nigel;
    • Olivé, Montse
    Publication type:
    Article
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    13

    Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 1, p. 71, doi. 10.1007/s00401-022-02513-5
    By:
    • Cimino, Patrick J.;
    • Ketchum, Courtney;
    • Turakulov, Rust;
    • Singh, Omkar;
    • Abdullaev, Zied;
    • Giannini, Caterina;
    • Pytel, Peter;
    • Lopez, Giselle Yvette;
    • Colman, Howard;
    • Nasrallah, MacLean P.;
    • Santi, Mariarita;
    • Fernandes, Igor Lima;
    • Nirschl, Jeff;
    • Dahiya, Sonika;
    • Neill, Stewart;
    • Solomon, David;
    • Perez, Eilis;
    • Capper, David;
    • Mani, Haresh;
    • Caccamo, Dario
    Publication type:
    Article