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Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Roth F, Dhiab J, Boulinguiez A, Mouigni HR, Lassche S, Negroni E, Muraine L, Marhic A, Oliver A, Lainé J, Rouche A, O'Ferrall EK, van Engelen B, Ottenheijm C, Greif H, Blumen S, Lacau St Guily J, Perie S, Butler-Browne G, Mouly V, Trollet C. Roth F, et al. Among authors: blumen s. Acta Neuropathol. 2022 Dec;144(6):1157-1170. doi: 10.1007/s00401-022-02503-7. Epub 2022 Oct 5. Acta Neuropathol. 2022. PMID: 36197469 Free PMC article.
PABPN1 gene therapy for oculopharyngeal muscular dystrophy.
Malerba A, Klein P, Bachtarzi H, Jarmin SA, Cordova G, Ferry A, Strings V, Espinoza MP, Mamchaoui K, Blumen SC, St Guily JL, Mouly V, Graham M, Butler-Browne G, Suhy DA, Trollet C, Dickson G. Malerba A, et al. Among authors: blumen sc. Nat Commun. 2017 Mar 31;8:14848. doi: 10.1038/ncomms14848. Nat Commun. 2017. PMID: 28361972 Free PMC article.
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders.
Mamchaoui K, Trollet C, Bigot A, Negroni E, Chaouch S, Wolff A, Kandalla PK, Marie S, Di Santo J, St Guily JL, Muntoni F, Kim J, Philippi S, Spuler S, Levy N, Blumen SC, Voit T, Wright WE, Aamiri A, Butler-Browne G, Mouly V. Mamchaoui K, et al. Among authors: blumen sc. Skelet Muscle. 2011 Nov 1;1:34. doi: 10.1186/2044-5040-1-34. Skelet Muscle. 2011. PMID: 22040608 Free PMC article.
58 results