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103 results

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Page 1
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R. Lamperti C, et al. Among authors: tupler r. Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671. Muscle Nerve. 2010. PMID: 20544930
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, Angeletti B, Ciscato P, Pellegrino MA, Bottinelli R, Green MR, Tupler R. Gabellini D, et al. Among authors: tupler r. Nature. 2006 Feb 23;439(7079):973-7. doi: 10.1038/nature04422. Epub 2005 Dec 11. Nature. 2006. PMID: 16341202
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia.
Trevisan CP, Pastorello E, Armani M, Angelini C, Nante G, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Barchitta A. Trevisan CP, et al. Eur Neurol. 2006;56(1):1-5. doi: 10.1159/000094248. Epub 2006 Jun 27. Eur Neurol. 2006. PMID: 16804309
New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP. Cagliani R, et al. Among authors: tupler r. J Neurol Sci. 2011 Jan 15;300(1-2):107-13. doi: 10.1016/j.jns.2010.09.011. J Neurol Sci. 2011. PMID: 20937510
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.
Ricci G, Scionti I, Alì G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G. Ricci G, et al. Among authors: tupler r. Neuromuscul Disord. 2012 Jun;22(6):534-40. doi: 10.1016/j.nmd.2011.12.001. Epub 2012 Jan 14. Neuromuscul Disord. 2012. PMID: 22245016 Free PMC article.
103 results