Works matching Neurological disorders -- Genetic aspects


Results: 130
    1

    RNAseq analysis for the diagnosis of muscular dystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267
    By:
    • Gonorazky, Hernan;
    • Liang, Minggao;
    • Cummings, Beryl;
    • Lek, Monkol;
    • Micallef, Johann;
    • Hawkins, Cynthia;
    • Basran, Raveen;
    • Cohn, Ronald;
    • Wilson, Michael D.;
    • MacArthur, Daniel;
    • Marshall, Christian R.;
    • Ray, Peter N.;
    • Dowling, James J.
    Publication type:
    Article
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    The National NeuroAIDS Tissue Consortium Brain Gene Array: Two Types of HIV-Associated Neurocognitive Impairment.

    Published in:
    PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046178
    By:
    • Gelman, Benjamin B.;
    • Tiansheng Chen;
    • Lisinicchia, Joshua G.;
    • Soukup, Vicki M.;
    • Carmical, J. Russ;
    • Starkey, Jonathan M.;
    • Masliah, Eliezer;
    • Commins, Deborah L.;
    • Brandt, Dianne;
    • Grant, Igor;
    • Singer, Elyse J.;
    • Levine, Andrew J.;
    • Miller, Jeremy;
    • Winkler, Jessica M.;
    • Fox, Howard S.;
    • Luxon, Bruce A.;
    • Morgello, Susan;
    • Chêne, Geneviève
    Publication type:
    Article
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    The Kaleidoscope of Microglial Phenotypes.

    Published in:
    Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01753
    By:
    • Dubbelaar, Marissa L.;
    • Kracht, Laura;
    • Eggen, Bart J. L.;
    • Boddeke, Erik W. G. M.
    Publication type:
    Article
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    Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

    Published in:
    2018
    By:
    • Parodi, Livia;
    • Fenu, Silvia;
    • Barbier, Mathieu;
    • Banneau, Guillaume;
    • Duyckaerts, Charles;
    • Montcel, Sophie Tezenas du;
    • Monin, Marie-Lorraine;
    • Said, Samia Ait;
    • Guegan, Justine;
    • Tallaksen, Chantal M E;
    • Tezenas du Montcel, Sophie;
    • Ait Said, Samia;
    • Sablonniere, Bertrand;
    • Brice, Alexis;
    • Stevanin, Giovanni;
    • Depienne, Christel;
    • Durr, Alexandra;
    • SPATAX network
    Publication type:
    journal article
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    PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.

    Published in:
    2018
    By:
    • Fruscione, Floriana;
    • Valente, Pierluigi;
    • Sterlini, Bruno;
    • Romei, Alessandra;
    • Baldassari, Simona;
    • Fadda, Manuela;
    • Prestigio, Cosimo;
    • Giansante, Giorgia;
    • Sartorelli, Jacopo;
    • Rossi, Pia;
    • Rubio, Alicia;
    • Gambardella, Antonio;
    • Nieus, Thierry;
    • Broccoli, Vania;
    • Fassio, Anna;
    • Baldelli, Pietro;
    • Corradi, Anna;
    • Zara, Federico;
    • Benfenati, Fabio
    Publication type:
    journal article
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    A gene for neurofibromatosis 2.

    Published in:
    Nature, 1993, v. 363, n. 6429, p. 495, doi. 10.1038/363495a0
    By:
    • Kinzler, Kenneth W.;
    • Vogelstein, Bert
    Publication type:
    Article
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    Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.

    Published in:
    Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0225-z
    By:
    • Malik, Anna R.;
    • Liszewska, Ewa;
    • Skalecka, Agnieszka;
    • Urbanska, Malgorzata;
    • Iyer, Anand M.;
    • Swiech, Lukasz J.;
    • Perycz, Malgorzata;
    • Parobczak, Kamil;
    • Pietruszka, Patrycja;
    • Zarebska, Malgorzata M.;
    • Macias, Matylda;
    • Kotulska, Katarzyna;
    • Borkowska, Julita;
    • Grajkowska, Wieslawa;
    • Tyburczy, Magdalena E.;
    • Jozwiak, Sergiusz;
    • Kwiatkowski, David J.;
    • Aronica, Eleonora;
    • Jaworski, Jacek
    Publication type:
    Article
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    Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

    Published in:
    Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
    By:
    • Ruggieri, Alessandra;
    • Brancati, Francesco;
    • Zanotti, Simona;
    • Maggi, Lorenzo;
    • Pasanisi, Maria Barbara;
    • Saredi, Simona;
    • Terracciano, Chiara;
    • Antozzi, Carlo;
    • D'Apice, Maria Rosaria;
    • Sangiuolo, Federica;
    • Novelli, Giuseppe;
    • Marshall, Christian R.;
    • Scherer, Stephen W.;
    • Morandi, Lucia;
    • Federici, Luca;
    • Massa, Roberto;
    • Mora, Marina;
    • Minassian, Berge A.
    Publication type:
    Article
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