Works matching AU Bugiani, Marianna

Results: 89
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11

    Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle.

    Published in:
    Annals of Neurology, 2015, v. 77, n. 1, p. 114, doi. 10.1002/ana.24307
    By:
    • Dubey, Mohit;
    • Bugiani, Marianna;
    • Ridder, Margreet C.;
    • Postma, Nienke L.;
    • Brouwers, Eelke;
    • Polder, Emiel;
    • Jacobs, J. Gerbren;
    • Baayen, Johannes C.;
    • Klooster, Jan;
    • Kamermans, Maarten;
    • Aardse, Romy;
    • Kock, Christiaan P. J.;
    • Dekker, Marien P.;
    • Weering, Jan R. T.;
    • Heine, Vivi M.;
    • Abbink, Truus E. M.;
    • Scheper, Gert C.;
    • Boor, Ilja;
    • Lodder, Johannes C.;
    • Mansvelder, Huibert D.
    Publication type:
    Article
    12

    Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias.

    Published in:
    Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1341, doi. 10.1111/j.1528-1167.2012.03508.x
    By:
    • Coras, Roland;
    • de Boer, Onno J.;
    • Armstrong, Dawna;
    • Becker, Albert;
    • Jacques, Thomas S.;
    • Miyata, Hajime;
    • Thom, Maria;
    • Vinters, Harry V.;
    • Spreafico, Roberto;
    • Oz, Buge;
    • Marucci, Gianluca;
    • Pimentel, Jose;
    • Mühlebner, Angelika;
    • Zamecnik, Josef;
    • Buccoliero, Anna Maria;
    • Rogerio, Fabio;
    • Streichenberger, Nathalie;
    • Arai, Nobutaka;
    • Bugiani, Marianna;
    • Vogelgesang, Silke
    Publication type:
    Article
    13
    14

    Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1265, doi. 10.1002/jimd.12275
    By:
    • Staps, Pippa;
    • Rizzo, William B.;
    • Vaz, Frédéric M.;
    • Bugiani, Marianna;
    • Giera, Martin;
    • Heijs, Bram;
    • Kampen, Antoine H. C.;
    • Pras‐Raves, Mia L.;
    • Breur, Marjolein;
    • Groen, Annemieke;
    • Ferdinandusse, Sacha;
    • Graaf, Marinette;
    • Van Goethem, Gert;
    • Lammens, Martin;
    • Wevers, Ron A.;
    • Willemsen, Michèl A. A. P.
    Publication type:
    Article
    15
    16
    17

    Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.

    Published in:
    Acta Neuropathologica, 2022, v. 144, n. 2, p. 211, doi. 10.1007/s00401-022-02440-5
    By:
    • Berdowski, Woutje M.;
    • van der Linde, Herma C.;
    • Breur, Marjolein;
    • Oosterhof, Nynke;
    • Beerepoot, Shanice;
    • Sanderson, Leslie;
    • Wijnands, Lieve I.;
    • de Jong, Patrick;
    • Tsai-Meu-Chong, Elisa;
    • de Valk, Walter;
    • de Witte, Moniek;
    • van IJcken, Wilfred F. J.;
    • Demmers, Jeroen;
    • van der Knaap, Marjo S.;
    • Bugiani, Marianna;
    • Wolf, Nicole I.;
    • van Ham, Tjakko J.
    Publication type:
    Article
    18

    DTYMK is essential for genome integrity and neuronal survival.

    Published in:
    Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
    By:
    • Vanoevelen, Jo M.;
    • Bierau, Jörgen;
    • Grashorn, Janine C.;
    • Lambrichs, Ellen;
    • Kamsteeg, Erik-Jan;
    • Bok, Levinus A.;
    • Wevers, Ron A.;
    • van der Knaap, Marjo S.;
    • Bugiani, Marianna;
    • Frisk, Junmei Hu;
    • Colnaghi, Rita;
    • O'Driscoll, Mark;
    • Hellebrekers, Debby M. E. I.;
    • Rodenburg, Richard;
    • Ferreira, Carlos R.;
    • Brunner, Han G.;
    • van den Wijngaard, Arthur;
    • Abdel-Salam, Ghada M. H.;
    • Wang, Liya;
    • Stumpel, Constance T. R. M.
    Publication type:
    Article
    19
    20
    21
    22
    23

    Phenotypic characterization of hypomyelination and congenital cataract.

    Published in:
    Annals of Neurology, 2007, v. 62, n. 2, p. 121, doi. 10.1002/ana.21175
    By:
    • Biancheri, Roberta;
    • Zara, Federico;
    • Bruno, Claudio;
    • Rossi, Andrea;
    • Bordo, Laura;
    • Gazzerro, Elisabetta;
    • Sotgia, Federica;
    • Pedemonte, Marina;
    • Scapolan, Sara;
    • Bado, Massimo;
    • Uziel, Graziella;
    • Bugiani, Marianna;
    • Lamba, Laura Doria;
    • Costa, Valeria;
    • Schenone, Angelo;
    • Rozemuller, Annemieke J. M.;
    • Tortori-Donati, Paolo;
    • Lisanti, Michael P.;
    • van der Knaap, Marjo S.;
    • Minetti, Carlo
    Publication type:
    Article
    24
    25
    26

    Retinoic Acid Induces Blood-Brain Barrier Development.

    Published in:
    Journal of Neuroscience, 2013, v. 33, n. 4, p. 1660, doi. 10.1523/JNEUROSCI.1338-12.2013
    By:
    • Mizee, Mark R.;
    • Wooldrik, Desiree;
    • Lakeman, Kim A. M.;
    • van het Hof, Bert;
    • Drexhage, Joost A. R.;
    • Geerts, Dirk;
    • Bugiani, Marianna;
    • Aronica, Eleonora;
    • Mebius, Reina E.;
    • Prat, Alexandre;
    • de Vries, Helga E.;
    • Reijerkerk, Arie
    Publication type:
    Article
    27

    Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

    Published in:
    Nature Genetics, 2007, v. 39, n. 4, p. 534, doi. 10.1038/ng2013
    By:
    • Scheper, Gert C.;
    • van der Klok, Thom;
    • van Andel, Rob J.;
    • van Berkel, Carola G. M.;
    • Sissler, Marie;
    • Smet, Joél;
    • Muravina, Tatjana I.;
    • Serkov, Sergey V.;
    • Uziel, Graziella;
    • Bugiani, Marianna;
    • Schiffmann, Raphael;
    • Krägeloh-Mann, Ingeborg;
    • Smeitink, Jan A. M.;
    • Florentz, Catherine;
    • Van Coster, Rudy;
    • Pronk, Jan C.;
    • van der Knaap, Marjo S.
    Publication type:
    Article
    28
    29

    Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies.

    Published in:
    Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01784-1
    By:
    • Plug, Bonnie C.;
    • Revers, Ilma M.;
    • Breur, Marjolein;
    • González, Gema Muñoz;
    • Timmerman, Jaap A.;
    • Meijns, Niels R.C.;
    • Hamberg, Daniek;
    • Wagendorp, Jikke;
    • Nutma, Erik;
    • Wolf, Nicole I.;
    • Luchicchi, Antonio;
    • Mansvelder, Huibert D.;
    • van Til, Niek P.;
    • van der Knaap, Marjo S.;
    • Bugiani, Marianna
    Publication type:
    Article
    30

    Regional vulnerability of brain white matter in vanishing white matter.

    Published in:
    Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01599-6
    By:
    • Man, Jodie H.K.;
    • van Gelder, Charlotte A.G.H.;
    • Breur, Marjolein;
    • Molenaar, Douwe;
    • Abbink, Truus;
    • Altelaar, Maarten;
    • Bugiani, Marianna;
    • van der Knaap, Marjo S.
    Publication type:
    Article
    31
    32
    33
    34

    MEK/MELK inhibition and blood–brain barrier deficiencies in atypical teratoid/rhabdoid tumors.

    Published in:
    Neuro-Oncology, 2020, v. 22, n. 1, p. 58, doi. 10.1093/neuonc/noz151
    By:
    • Meel, Michaël H;
    • Navarro, Miriam Guillén;
    • Gooijer, Mark C de;
    • Metselaar, Dennis S;
    • Waranecki, Piotr;
    • Breur, Marjolein;
    • Lagerweij, Tonny;
    • Wedekind, Laurine E;
    • Koster, Jan;
    • Wetering, Marianne D van de;
    • Meeteren, Netteke Schouten-van;
    • Aronica, Eleonora;
    • Tellingen, Olaf van;
    • Bugiani, Marianna;
    • Phoenix, Timothy N;
    • Kaspers, Gertjan J L;
    • Hulleman, Esther
    Publication type:
    Article
    35

    Pre-B-cell leukemia homeobox interacting protein 1 is overexpressed in astrocytoma and promotes tumor cell growth and migration.

    Published in:
    Neuro-Oncology, 2014, v. 16, n. 7, p. 946, doi. 10.1093/neuonc/not308
    By:
    • van Vuurden, Dannis G.;
    • Aronica, Eleonora;
    • Hulleman, Esther;
    • Wedekind, Laurine E.;
    • Biesmans, Dennis;
    • Malekzadeh, Arjan;
    • Bugiani, Marianna;
    • Geerts, Dirk;
    • Noske, David P.;
    • Vandertop, W. Peter;
    • Kaspers, Gertjan J.L.;
    • Cloos, Jacqueline;
    • Würdinger, Thomas;
    • van der Stoop, Petra P.M.
    Publication type:
    Article
    36
    37
    38

    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1534, doi. 10.1093/brain/awt054
    By:
    • Kevelam, Sietske H.;
    • Bugiani, Marianna;
    • Salomons, Gajja S.;
    • Feigenbaum, Annette;
    • Blaser, Susan;
    • Prasad, Chitra;
    • Häberle, Johannes;
    • Barić, Ivo;
    • Bakker, Ingrid M. C.;
    • Postma, Nienke L.;
    • Kanhai, Warsha A.;
    • Wolf, Nicole I.;
    • Abbink, Truus E. M.;
    • Waisfisz, Quinten;
    • Heutink, Peter;
    • van der Knaap, Marjo S.
    Publication type:
    Article
    39
    40
    41

    Rhythmic cortical myoclonus in Niemann-Pick disease type C.

    Published in:
    Movement Disorders, 2006, v. 21, n. 9, p. 1453, doi. 10.1002/mds.20984
    By:
    • Canafoglia, Laura;
    • Bugiani, Marianna;
    • Uziel, Graziella;
    • Dalla Bernardina, Bernardo;
    • Ciano, Claudia;
    • Scaioli, Vidmer;
    • Avanzini, Giuliano;
    • Franceschetti, Silvana;
    • Panzica, Ferruccio
    Publication type:
    Article
    42
    43
    44
    45
    46
    47
    48
    49

    Human pontine glioma cells can induce murine tumors.

    Published in:
    Acta Neuropathologica, 2014, v. 127, n. 6, p. 897, doi. 10.1007/s00401-014-1272-4
    By:
    • Caretti, Viola;
    • Sewing, A.;
    • Lagerweij, Tonny;
    • Schellen, Pepijn;
    • Bugiani, Marianna;
    • Jansen, Marc;
    • Vuurden, Dannis;
    • Navis, Anna;
    • Horsman, Ilona;
    • Vandertop, W.;
    • Noske, David;
    • Wesseling, Pieter;
    • Kaspers, Gertjan;
    • Nazarian, Javad;
    • Vogel, Hannes;
    • Hulleman, Esther;
    • Monje, Michelle;
    • Wurdinger, Thomas
    Publication type:
    Article
    50