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FSHD1 and FSHD2 form a disease continuum.
Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. Sacconi S, et al. Among authors: cambieri c. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12. Neurology. 2019. PMID: 30979860 Free PMC article.
Immune-mediated myogenesis and acetylcholine receptor clustering promote a slow disease progression in ALS mouse models.
Margotta C, Fabbrizio P, Ceccanti M, Cambieri C, Ruffolo G, D'Agostino J, Trolese MC, Cifelli P, Alfano V, Laurini C, Scaricamazza S, Ferri A, Sorarù G, Palma E, Inghilleri M, Bendotti C, Nardo G. Margotta C, et al. Among authors: cambieri c. Inflamm Regen. 2023 Mar 9;43(1):19. doi: 10.1186/s41232-023-00270-w. Inflamm Regen. 2023. PMID: 36895050 Free PMC article.
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM. Balog J, et al. Among authors: cambieri c. J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21. J Med Genet. 2018. PMID: 29563141 Free PMC article.
Nerve high-resolution ultrasonography in tangier disease.
Pasquale AD, Leonardi L, Fionda L, Vanoli F, Garibaldi M, Inghilleri M, Ceccanti M, Cambieri C, Onesti E, Antonini G. Pasquale AD, et al. Among authors: cambieri c. Muscle Nerve. 2019 May;59(5):587-590. doi: 10.1002/mus.26427. Epub 2019 Feb 7. Muscle Nerve. 2019. PMID: 30680752
A case of motor neuron involvement in Gaucher disease.
Pozzilli V, Giona F, Ceccanti M, Cambieri C, Frasca V, Onesti E, Libonati L, Di Bari S, Fiorini I, Cardarelli L, Santopietro M, Inghilleri M. Pozzilli V, et al. Among authors: cambieri c. Mol Genet Metab Rep. 2019 Nov 12;21:100540. doi: 10.1016/j.ymgmr.2019.100540. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31844629 Free PMC article.
42 results