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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. Lausberg E, et al. Among authors: sommer cj. J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078. J Clin Invest. 2021. PMID: 33945503 Free PMC article.
Small-fiber neuropathy in patients with ALS.
Weis J, Katona I, Müller-Newen G, Sommer C, Necula G, Hendrich C, Ludolph AC, Sperfeld AD. Weis J, et al. Neurology. 2011 Jun 7;76(23):2024-9. doi: 10.1212/WNL.0b013e31821e553a. Neurology. 2011. PMID: 21646630
39 results