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PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY, Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA, Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE, Mancini GMS, Barakat TS, Steinfeld R, Rüsch CT, Stettner GM, Wagner M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S, Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H, Kinoshita T, Campeau PM, Murakami Y. Tremblay-Laganière C, et al. Among authors: rusch ct. Genet Med. 2021 Oct;23(10):1873-1881. doi: 10.1038/s41436-021-01215-9. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113002 Free PMC article.
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland.
Tscherter A, Rüsch CT, Baumann D, Enzmann C, Hasselmann O, Jacquier D, Jung HH, Kruijshaar ME, Kuehni CE, Neuwirth C, Stettner GM, Klein A; Swiss-Reg-NMD group. Tscherter A, et al. Among authors: rusch ct. Neuromuscul Disord. 2022 May;32(5):399-409. doi: 10.1016/j.nmd.2022.02.001. Epub 2022 Feb 9. Neuromuscul Disord. 2022. PMID: 35337708 Free article.
Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children.
Rüsch CT, Knirsch U, Weber DM, Rohrbach M, Eichenberger A, Lütschg J, Weber K, Broser PJ, Stettner GM. Rüsch CT, et al. Children (Basel). 2021 Jul 23;8(8):624. doi: 10.3390/children8080624. Children (Basel). 2021. PMID: 34438514 Free PMC article.