Works matching IS 00068950 AND DT 2022 AND VI 145 AND IP 9


Results: 35
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    Mutations in TAF8 cause a neurodegenerative disorder.

    Published in:
    2022
    By:
    • Wong, Keit Men;
    • Jepsen, Wayne M;
    • Efthymiou, Stephanie;
    • Salpietro, Vincenzo;
    • Sanchez-Castillo, Meredith;
    • Yip, Janice;
    • Kriouile, Yamna;
    • Diegmann, Susann;
    • Dreha-Kulaczewski, Steffi;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Toosi, Mehran Beiraghi;
    • Akhondian, Javad;
    • Karimiani, Ehsan Ghayoor;
    • Hummel-Abmeier, Hannah;
    • Huppke, Brenda;
    • Houlden, Henry;
    • Gärtner, Jutta;
    • Maroofian, Reza
    Publication type:
    journal article
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    philosopher of the nervous system.

    Published in:
    Brain: A Journal of Neurology, 2022, v. 145, n. 9, p. 3328, doi. 10.1093/brain/awac195
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Brain atrophy in prodromal synucleinopathy is shaped by structural connectivity and gene expression.

    Published in:
    2022
    By:
    • Rahayel, Shady;
    • Tremblay, Christina;
    • Vo, Andrew;
    • Zheng, Ying Qiu;
    • Lehéricy, Stéphane;
    • Arnulf, Isabelle;
    • Vidailhet, Marie;
    • Corvol, Jean Christophe;
    • Group, ICEBERG Study;
    • Gagnon, Jean François;
    • Postuma, Ronald B;
    • Montplaisir, Jacques;
    • Lewis, Simon;
    • Matar, Elie;
    • Martens, Kaylena Ehgoetz;
    • Borghammer, Per;
    • Knudsen, Karoline;
    • Hansen, Allan;
    • Monchi, Oury;
    • Misic, Bratislav
    Publication type:
    journal article
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    Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

    Published in:
    Brain: A Journal of Neurology, 2022, v. 145, n. 9, p. 3274, doi. 10.1093/brain/awac164
    By:
    • Donato, Nataliya Di;
    • Guerrini, Renzo;
    • Billington, Charles J;
    • Barkovich, A James;
    • Dinkel, Philine;
    • Freri, Elena;
    • Heide, Michael;
    • Gershon, Elliot S;
    • Gertler, Tracy S;
    • Hopkin, Robert J;
    • Jacob, Suma;
    • Keedy, Sarah K;
    • Kooshavar, Daniz;
    • Lockhart, Paul J;
    • Lohmann, Dietmar R;
    • Mahmoud, Iman G;
    • Parrini, Elena;
    • Schrock, Evelin;
    • Severi, Giulia;
    • Timms, Andrew E
    Publication type:
    Article
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    TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

    Published in:
    2022
    By:
    • Tábara, Luis Carlos;
    • Al-Salmi, Fatema;
    • Maroofian, Reza;
    • Al-Futaisi, Amna Mohammed;
    • Al-Murshedi, Fathiya;
    • Kennedy, Joanna;
    • Day, Jacob O;
    • Courtin, Thomas;
    • Al-Khayat, Aisha;
    • Galedari, Hamid;
    • Mazaheri, Neda;
    • Protasoni, Margherita;
    • Johnson, Mark;
    • Leslie, Joseph S;
    • Salter, Claire G;
    • Rawlins, Lettie E;
    • Fasham, James;
    • Al-Maawali, Almundher;
    • Voutsina, Nikol;
    • Charles, Perrine
    Publication type:
    journal article
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    Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

    Published in:
    2022
    By:
    • Scala, Marcello;
    • Nishikawa, Masashi;
    • Ito, Hidenori;
    • Tabata, Hidenori;
    • Khan, Tayyaba;
    • Accogli, Andrea;
    • Davids, Laura;
    • Ruiz, Anna;
    • Chiurazzi, Pietro;
    • Cericola, Gabriella;
    • Schulte, Björn;
    • Monaghan, Kristin G;
    • Begtrup, Amber;
    • Torella, Annalaura;
    • Pinelli, Michele;
    • Denommé-Pichon, Anne Sophie;
    • Vitobello, Antonio;
    • Racine, Caroline;
    • Mancardi, Maria Margherita;
    • Kiss, Courtney
    Publication type:
    journal article
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    How patients with multiple sclerosis acquire disability.

    Published in:
    2022
    By:
    • Lublin, Fred D;
    • Häring, Dieter A;
    • Ganjgahi, Habib;
    • Ocampo, Alex;
    • Hatami, Farhad;
    • Čuklina, Jelena;
    • Aarden, Piet;
    • Dahlke, Frank;
    • Arnold, Douglas L;
    • Wiendl, Heinz;
    • Chitnis, Tanuja;
    • Nichols, Thomas E;
    • Kieseier, Bernd C;
    • Bermel, Robert A
    Publication type:
    journal article
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