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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Chemin, Jean, Siquier-Pernet, Karine, Nicouleau, Michaël, Barcia, Giulia, Ahmad, Ali, Medina-Cano, Daniel, Hanein, Sylvain, Altin, Nami, Hubert, Laurence, Bole-Feysot, Christine, Fourage, Cécile, Nitschké, Patrick, Thevenon, Julien, Rio, Marlène, Blanc, Pierre, vidal, Céline, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Lyonnet, Stanislas, Boddaert, Nathalie, Fassi, Emily, Shinawi, Marwan, Zimmerman, Holly, Amiel, Jeanne, Faivre, Laurence, Colleaux, Laurence, Lory, Philippe, Cantagrel, Vincent
Published in Brain (London, England : 1878) (01.07.2018)
Published in Brain (London, England : 1878) (01.07.2018)
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Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy
Göös, Helka, Fogarty, Christopher L., Sahu, Biswajyoti, Plagnol, Vincent, Rajamäki, Kristiina, Nurmi, Katariina, Liu, Xiaonan, Einarsdottir, Elisabet, Jouppila, Annukka, Pettersson, Tom, Vihinen, Helena, Krjutskov, Kaarel, Saavalainen, Päivi, Järvinen, Asko, Muurinen, Mari, Greco, Dario, Scala, Giovanni, Curtis, James, Nordström, Dan, Flaumenhaft, Robert, Vaarala, Outi, Kovanen, Panu E., Keskitalo, Salla, Ranki, Annamari, Kere, Juha, Lehto, Markku, Notarangelo, Luigi D., Nejentsev, Sergey, Eklund, Kari K., Varjosalo, Markku, Taipale, Jussi, Seppänen, Mikko R.J.
Published in Journal of allergy and clinical immunology (01.11.2019)
Published in Journal of allergy and clinical immunology (01.11.2019)
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Germline gain-of-function myeloid differentiation primary response gene–88 (MYD88) mutation in a child with severe arthritis
Sikora, Keith A., Bennett, Joshua R., Vyncke, Laurens, Deng, Zuoming, Tsai, Wanxia Li, Pauwels, Ewald, Layh-Schmitt, Gerlinde, Brundidge, April, Navid, Fatemeh, Zaal, Kristien J.M., Hanson, Eric, Gadina, Massimo, Staudt, Louis M., Griffin, Thomas A., Tavernier, Jan, Peelman, Frank, Colbert, Robert A.
Published in Journal of allergy and clinical immunology (01.05.2018)
Published in Journal of allergy and clinical immunology (01.05.2018)
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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
Tirosh, Irit, Spielman, Shiri, Barel, Ortal, Ram, Reut, Stauber, Tali, Paret, Gideon, Rubinsthein, Marina, Pessach, Itai M., Gerstein, Maya, Anikster, Yair, Shukrun, Rachel, Dagan, Adi, Adler, Katerina, Pode-Shakked, Ben, Volkov, Alexander, Perelman, Marina, Greenberger, Shoshana, Somech, Raz, Lahav, Einat, Majmundar, Amar J., Padeh, Shai, Hildebrandt, Friedhelm, Vivante, Asaf
Published in Pediatric rheumatology online journal (30.07.2019)
Published in Pediatric rheumatology online journal (30.07.2019)
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