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Page 1
Phenotype modulators in myophosphorylase deficiency.
Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Martinuzzi A, et al. Among authors: siciliano g. Ann Neurol. 2003 Apr;53(4):497-502. doi: 10.1002/ana.10499. Ann Neurol. 2003. PMID: 12666117
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.
Sacconi S, Trevisson E, Salviati L, Aymé S, Rigal O, Redondo AG, Mancuso M, Siciliano G, Tonin P, Angelini C, Auré K, Lombès A, Desnuelle C. Sacconi S, et al. Among authors: siciliano g. Neuromuscul Disord. 2010 Jan;20(1):44-8. doi: 10.1016/j.nmd.2009.10.014. Epub 2009 Nov 27. Neuromuscul Disord. 2010. PMID: 19945282
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: siciliano g. Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671. Muscle Nerve. 2010. PMID: 20544930
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: siciliano g. 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.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Scionti I, et al. Among authors: siciliano g. Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019. Am J Hum Genet. 2012. PMID: 22482803 Free PMC article.
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.
Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A; Italian Group on GSDII. Angelini C, et al. Among authors: siciliano g. Muscle Nerve. 2012 Jun;45(6):831-4. doi: 10.1002/mus.23340. Muscle Nerve. 2012. PMID: 22581536
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: siciliano g. Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1. Neurology. 2013. PMID: 23635963
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Torella A, et al. Among authors: siciliano g. PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536. Print 2013. PLoS One. 2013. PMID: 23667635 Free PMC article.
637 results