Works matching IS 00068950 AND DT 2021 AND VI 144 AND IP 5

Results: 43
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    LRRK2 G2019S kinase activity triggers neurotoxic NSF aggregation.

    Published in:
    2021
    By:
    • Pischedda, Francesca;
    • Cirnaru, Maria Daniela;
    • Ponzoni, Luisa;
    • Sandre, Michele;
    • Biosa, Alice;
    • Carrion, Maria Perez;
    • Marin, Oriano;
    • Morari, Michele;
    • Pan, Lifeng;
    • Greggio, Elisa;
    • Bandopadhyay, Rina;
    • Sala, Mariaelvina;
    • Piccoli, Giovanni
    Publication type:
    journal article
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    RFC1 expansions are a common cause of idiopathic sensory neuropathy.

    Published in:
    2021
    By:
    • Currò, Riccardo;
    • Salvalaggio, Alessandro;
    • Tozza, Stefano;
    • Gemelli, Chiara;
    • Dominik, Natalia;
    • Deforie, Valentina Galassi;
    • Magrinelli, Francesca;
    • Castellani, Francesca;
    • Vegezzi, Elisa;
    • Businaro, Pietro;
    • Callegari, Ilaria;
    • Pichiecchio, Anna;
    • Cosentino, Giuseppe;
    • Alfonsi, Enrico;
    • Marchioni, Enrico;
    • Colnaghi, Silvia;
    • Gana, Simone;
    • Valente, Enza Maria;
    • Tassorelli, Cristina;
    • Efthymiou, Stephanie
    Publication type:
    journal article
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    Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.

    Published in:
    2021
    By:
    • Rebelo, Adriana P;
    • Eidhof, Ilse;
    • Cintra, Vivian P;
    • Guillot-Noel, Léna;
    • Pereira, Claudia V;
    • Timmann, Dagmar;
    • Traschütz, Andreas;
    • Schöls, Ludger;
    • Coarelli, Giulia;
    • Durr, Alexandra;
    • Anheim, Mathieu;
    • Tranchant, Christine;
    • van de Warrenburg, Bart;
    • Guissart, Claire;
    • Koenig, Michel;
    • Howell, Jack;
    • Moraes, Carlos T;
    • Schenck, Annette;
    • Stevanin, Giovanni;
    • Züchner, Stephan
    Publication type:
    journal article
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    Neuroinflammation is highest in areas of disease progression in semantic dementia.

    Published in:
    2021
    By:
    • Pascual, Belen;
    • Funk, Quentin;
    • Zanotti-Fregonara, Paolo;
    • Cykowski, Matthew D;
    • Veronese, Mattia;
    • Rockers, Elijah;
    • Bradbury, Kathleen;
    • Yu, Meixiang;
    • Nakawah, Mohammad O;
    • Román, Gustavo C;
    • Schulz, Paul E;
    • Arumanayagam, Anithachristy S;
    • Beers, David;
    • Faridar, Alireza;
    • Fujita, Masahiro;
    • Appel, Stanley H;
    • Masdeu, Joseph C
    Publication type:
    journal article
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    Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

    Published in:
    2021
    By:
    • Bonora, Elena;
    • Chakrabarty, Sanjiban;
    • Kellaris, Georgios;
    • Tsutsumi, Makiko;
    • Bianco, Francesca;
    • Bergamini, Christian;
    • Ullah, Farid;
    • Isidori, Federica;
    • Liparulo, Irene;
    • Diquigiovanni, Chiara;
    • Masin, Luca;
    • Rizzardi, Nicola;
    • Cratere, Mariapia Giuditta;
    • Boschetti, Elisa;
    • Papa, Valentina;
    • Maresca, Alessandra;
    • Cenacchi, Giovanna;
    • Casadio, Rita;
    • Martelli, Pierluigi;
    • Matera, Ivana
    Publication type:
    journal article
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    Disruption of the blood-brain barrier in 22q11.2 deletion syndrome.

    Published in:
    2021
    By:
    • Crockett, Alexis M;
    • Ryan, Sean K;
    • Vásquez, Adriana Hernandez;
    • Canning, Caroline;
    • Kanyuch, Nickole;
    • Kebir, Hania;
    • Ceja, Guadalupe;
    • Gesualdi, James;
    • Zackai, Elaine;
    • McDonald-McGinn, Donna;
    • Viaene, Angela;
    • Kapoor, Richa;
    • Benallegue, Naïl;
    • Gur, Raquel;
    • Anderson, Stewart A;
    • Alvarez, Jorge I
    Publication type:
    journal article
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    Impaired cerebral microcirculation in isolated REM sleep behaviour disorder.

    Published in:
    2021
    By:
    • Eskildsen, Simon F;
    • Iranzo, Alex;
    • Stokholm, Morten G;
    • Stær, Kristian;
    • Østergaard, Karen;
    • Serradell, Mónica;
    • Otto, Marit;
    • Svendsen, Kristina B;
    • Garrido, Alicia;
    • Vilas, Dolores;
    • Borghammer, Per;
    • Santamaria, Joan;
    • Møller, Arne;
    • Gaig, Carles;
    • Brooks, David J;
    • Tolosa, Eduardo;
    • Østergaard, Leif;
    • Pavese, Nicola
    Publication type:
    journal article
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    ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

    Published in:
    2021
    By:
    • Vetro, Annalisa;
    • Nielsen, Hang N;
    • Holm, Rikke;
    • Hevner, Robert F;
    • Parrini, Elena;
    • Powis, Zoe;
    • Møller, Rikke S;
    • Bellan, Cristina;
    • Simonati, Alessandro;
    • Lesca, Gaétan;
    • Helbig, Katherine L;
    • Palmer, Elizabeth E;
    • Mei, Davide;
    • Ballardini, Elisa;
    • Haeringen, Arie Van;
    • Syrbe, Steffen;
    • Leuzzi, Vincenzo;
    • Cioni, Giovanni;
    • Curry, Cynthia J;
    • Costain, Gregory
    Publication type:
    journal article
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    Annexin A1 restores cerebrovascular integrity concomitant with reduced amyloid-β and tau pathology.

    Published in:
    2021
    By:
    • Ries, Miriam;
    • Watts, Helena;
    • Mota, Bibiana C;
    • Lopez, Maria Yanez;
    • Donat, Cornelius K;
    • Baxan, Nicoleta;
    • Pickering, James A;
    • Chau, Tsz Wing;
    • Semmler, Annika;
    • Gurung, Brinda;
    • Aleksynas, Robertas;
    • Abelleira-Hervas, Laura;
    • Iqbal, Soha Jamshed;
    • Romero-Molina, Carmen;
    • Hernandez-Mir, Gerard;
    • d'Amati, Antonio;
    • Reutelingsperger, Chris;
    • Goldfinger, Marc H;
    • Gentleman, Steve M;
    • Leuven, Fred Van
    Publication type:
    journal article
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    Studying human nociceptors: from fundamentals to clinic.

    Published in:
    2021
    By:
    • Middleton, Steven J;
    • Barry, Allison M;
    • Comini, Maddalena;
    • Li, Yan;
    • Ray, Pradipta R;
    • Shiers, Stephanie;
    • Themistocleous, Andreas C;
    • Uhelski, Megan L;
    • Yang, Xun;
    • Dougherty, Patrick M;
    • Price, Theodore J;
    • Bennett, David L
    Publication type:
    journal article
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    Quantitative magnetic resonance imaging towards clinical application in multiple sclerosis.

    Published in:
    2021
    By:
    • Granziera, Cristina;
    • Wuerfel, Jens;
    • Barkhof, Frederik;
    • Calabrese, Massimiliano;
    • Stefano, Nicola De;
    • Enzinger, Christian;
    • Evangelou, Nikos;
    • Filippi, Massimo;
    • Geurts, Jeroen J G;
    • Reich, Daniel S;
    • Rocca, Maria A;
    • Ropele, Stefan;
    • Rovira, Àlex;
    • Sati, Pascal;
    • Toosy, Ahmed T;
    • Vrenken, Hugo;
    • Wheeler-Kingshott, Claudia A M Gandini;
    • Kappos, Ludwig;
    • Group, the MAGNIMS Study;
    • De Stefano, Nicola
    Publication type:
    journal article
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    Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

    Published in:
    2021
    By:
    • Wiessner, Manuela;
    • Maroofian, Reza;
    • Ni, Meng-Yuan;
    • Pedroni, Andrea;
    • Müller, Juliane S;
    • Stucka, Rolf;
    • Beetz, Christian;
    • Efthymiou, Stephanie;
    • Santorelli, Filippo M;
    • Alfares, Ahmed A;
    • Zhu, Changlian;
    • Meszarosova, Anna Uhrova;
    • Alehabib, Elham;
    • Bakhtiari, Somayeh;
    • Janecke, Andreas R;
    • Otero, Maria Gabriela;
    • Chen, Jin Yun Helen;
    • Peterson, James T;
    • Strom, Tim M;
    • Jonghe, Peter De
    Publication type:
    journal article
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