Works matching IS 00068950 AND DT 2018 AND VI 141 AND IP 12

Results: 22
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    TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.

    Published in:
    2018
    By:
    • Sivakumar, Prasanth;
    • Giorgio, Francesca De;
    • Ule, Agnieszka M;
    • Neeves, Jacob;
    • Nair, Remya R;
    • Bentham, Matthew;
    • Birsa, Nicol;
    • Humphrey, Jack;
    • Plagnol, Vincent;
    • Acevedo-Arozena, Abraham;
    • De Giorgio, Francesca;
    • Cunningham, Thomas J;
    • Fisher, Elizabeth M C;
    • Fratta, Pietro
    Publication type:
    Letter
    3

    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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    A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

    Published in:
    2018
    By:
    • Castañeda, Marisol Sampedro;
    • Zanoteli, Edmar;
    • Scalco, Renata S;
    • Scaramuzzi, Vinicius;
    • Caldas, Vitor Marques;
    • Reed, Umbertina Conti;
    • Silva, Andre Macedo Serafim da;
    • O'Callaghan, Benjamin;
    • Phadke, Rahul;
    • Bugiardini, Enrico;
    • Sampedro Castañeda, Marisol;
    • Marques Caldas, Vitor;
    • Conti Reed, Umbertina;
    • da Silva, Andre Macedo Serafim;
    • Sud, Richa;
    • McCall, Samuel;
    • Hanna, Michael G;
    • Poulsen, Hanne;
    • Männikkö, Roope;
    • Matthews, Emma
    Publication type:
    journal article
    11
    12

    Microglial phenotypes in the human epileptic temporal lobe.

    Published in:
    2018
    By:
    • Morin-Brureau, Mélanie;
    • Milior, Giampaolo;
    • Royer, Juliette;
    • Chali, Farah;
    • LeDuigou, Caroline;
    • Savary, Etienne;
    • Blugeon, Corinne;
    • Jourdren, Laurent;
    • Akbar, David;
    • Dupont, Sophie;
    • Navarro, Vincent;
    • Baulac, Michel;
    • Bielle, Franck;
    • Mathon, Bertrand;
    • Clemenceau, Stéphane;
    • Miles, Richard;
    • Le Duigou, Caroline
    Publication type:
    journal article
    13

    Local structural connectivity is associated with social cognition in autism spectrum disorder.

    Published in:
    2018
    By:
    • d'Albis, Marc-Antoine;
    • Guevara, Pamela;
    • Guevara, Miguel;
    • Laidi, Charles;
    • Boisgontier, Jennifer;
    • Sarrazin, Samuel;
    • Duclap, Delphine;
    • Delorme, Richard;
    • Bolognani, Federico;
    • Czech, Christian;
    • Bouquet, Céline;
    • Ly-Le Moal, Myriam;
    • Holiga, Stefan;
    • Amestoy, Anouck;
    • Scheid, Isabelle;
    • Gaman, Alexandru;
    • Leboyer, Marion;
    • Poupon, Cyril;
    • Mangin, Jean-François;
    • Houenou, Josselin
    Publication type:
    journal article
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    Editorial.

    Published in:
    2018
    By:
    • Kullmann, Dimitri M
    Publication type:
    Editorial
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    Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

    Published in:
    2018
    By:
    • Mandarakas, Melissa R;
    • Menezes, Manoj P;
    • Rose, Kristy J;
    • Shy, Rosemary;
    • Eichinger, Kate;
    • Foscan, Maria;
    • Estilow, Timothy;
    • Kennedy, Rachel;
    • Herbert, Karen;
    • Bray, Paula;
    • Refshauge, Kathryn;
    • Ryan, Monique M;
    • Yiu, Eppie M;
    • Farrar, Michelle;
    • Sampaio, Hugo;
    • Moroni, Isabella;
    • Pagliano, Emanuela;
    • Pareyson, Davide;
    • Yum, Sabrina W;
    • Herrmann, David N
    Publication type:
    journal article
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