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168 results

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Page 1
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
Ruggiero L, Mele F, Manganelli F, Bruzzese D, Ricci G, Vercelli L, Govi M, Vallarola A, Tripodi S, Villa L, Di Muzio A, Scarlato M, Bucci E, Antonini G, Maggi L, Rodolico C, Tomelleri G, Filosto M, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Moggio M, Mongini T, Siciliano G, Santoro L, Tupler R. Ruggiero L, et al. Among authors: berardinelli a. JAMA Netw Open. 2020 May 1;3(5):e204040. doi: 10.1001/jamanetworkopen.2020.4040. JAMA Netw Open. 2020. PMID: 32356886 Free PMC article.
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations.
Melacini P, Fanin M, Duggan DJ, Freda MP, Berardinelli A, Danieli GA, Barchitta A, Hoffman EP, Dalla Volta S, Angelini C. Melacini P, et al. Among authors: berardinelli a. Muscle Nerve. 1999 Apr;22(4):473-9. doi: 10.1002/(sici)1097-4598(199904)22:4<473::aid-mus8>3.0.co;2-5. Muscle Nerve. 1999. PMID: 10204782
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Benedetti S, et al. Among authors: berardinelli a. Neurology. 2007 Sep 18;69(12):1285-92. doi: 10.1212/01.wnl.0000261254.87181.80. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377071
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: berardinelli a. Neuromuscul Disord. 2008 Jul;18(7):565-71. doi: 10.1016/j.nmd.2008.04.004. Epub 2008 Jun 2. Neuromuscul Disord. 2008. PMID: 18513969
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Mercuri E, et al. Among authors: berardinelli a. Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Neurology. 2009. PMID: 19299310
Reliability of the North Star Ambulatory Assessment in a multicentric setting.
Mazzone ES, Messina S, Vasco G, Main M, Eagle M, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Magri F, Corlatti A, Zucchini E, Brancalion B, Rossi F, Ferretti M, Motta MG, Cecio MR, Berardinelli A, Alfieri P, Mongini T, Pini A, Astrea G, Battini R, Comi G, Pegoraro E, Morandi L, Pane M, Angelini C, Bruno C, Villanova M, Vita G, Donati MA, Bertini E, Mercuri E. Mazzone ES, et al. Among authors: berardinelli a. Neuromuscul Disord. 2009 Jul;19(7):458-61. doi: 10.1016/j.nmd.2009.06.368. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553120 Clinical Trial.
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy.
Mazzone E, Martinelli D, Berardinelli A, Messina S, D'Amico A, Vasco G, Main M, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Carlesi A, Bonetti AM, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Pasquini E, Bruno C, Vita G, de Waure C, Bertini E, Mercuri E. Mazzone E, et al. Among authors: berardinelli a. Neuromuscul Disord. 2010 Nov;20(11):712-6. doi: 10.1016/j.nmd.2010.06.014. Epub 2010 Jul 14. Neuromuscul Disord. 2010. PMID: 20634072
168 results