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Page 1
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.
Nguyen CDL, Jimenez-Moreno AC, Merker M, Bowers CJ, Nikolenko N, Hentschel A, Müntefering T, Isham A, Ruck T, Vorgerd M, Dobelmann V, Gourdon G, Schara-Schmidt U, Gangfuss A, Schröder C, Sickmann A, Gross C, Gorman G, Stenzel W, Kollipara L, Hathazi D, Spendiff S, Gagnon C, Preusse C, Duchesne E, Lochmüller H, Roos A. Nguyen CDL, et al. Among authors: hathazi d. J Neurol. 2023 Jun;270(6):3138-3158. doi: 10.1007/s00415-023-11633-1. Epub 2023 Mar 9. J Neurol. 2023. PMID: 36892629
JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis.
Ladislau L, Suárez-Calvet X, Toquet S, Landon-Cardinal O, Amelin D, Depp M, Rodero MP, Hathazi D, Duffy D, Bondet V, Preusse C, Bienvenu B, Rozenberg F, Roos A, Benjamim CF, Gallardo E, Illa I, Mouly V, Stenzel W, Butler-Browne G, Benveniste O, Allenbach Y. Ladislau L, et al. Among authors: hathazi d. Brain. 2018 Jun 1;141(6):1609-1621. doi: 10.1093/brain/awy105. Brain. 2018. PMID: 29741608
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Issop Y, et al. Among authors: hathazi d. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. Hum Mol Genet. 2018. PMID: 29905857 Free PMC article.
Biochemical and pathological changes result from mutated Caveolin-3 in muscle.
González Coraspe JA, Weis J, Anderson ME, Münchberg U, Lorenz K, Buchkremer S, Carr S, Zahedi RP, Brauers E, Michels H, Sunada Y, Lochmüller H, Campbell KP, Freier E, Hathazi D, Roos A. González Coraspe JA, et al. Among authors: hathazi d. Skelet Muscle. 2018 Aug 28;8(1):28. doi: 10.1186/s13395-018-0173-y. Skelet Muscle. 2018. PMID: 30153853 Free PMC article.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. Among authors: hathazi d. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
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