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Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A. Cipriani S, et al. Eur J Neurol. 2023 Feb;30(2):511-526. doi: 10.1111/ene.15601. Epub 2022 Nov 21. Eur J Neurol. 2023. PMID: 36260368 Free PMC article.
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Guerrero-Valero M, Grandi F, Cipriani S, Alberizzi V, Di Guardo R, Chicanne G, Sawade L, Bianchi F, Del Carro U, De Curtis I, Pareyson D, Parman Y, Schenone A, Haucke V, Payrastre B, Bolino A. Guerrero-Valero M, et al. Among authors: cipriani s. Proc Natl Acad Sci U S A. 2021 Mar 9;118(10):e2009469118. doi: 10.1073/pnas.2009469118. Proc Natl Acad Sci U S A. 2021. PMID: 33653949 Free PMC article.
Clinical management of nondialysis patients with chronic kidney disease: a retrospective observational study. Data from the SONDA study (Survey Of Non-Dialysis outpAtients).
Morosetti M, Gorini A, Costanzo AM, Cipriani S, Dominijanni S, Egan CG, Zappalà L, di Luzio Paparatti U. Morosetti M, et al. Among authors: cipriani s. Int J Nephrol Renovasc Dis. 2013;6:27-37. doi: 10.2147/IJNRD.S38405. Epub 2013 Feb 18. Int J Nephrol Renovasc Dis. 2013. PMID: 23550080 Free PMC article.
11 results