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Page 1
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. Neurology. 2007 Sep 18;69(12):1285-92. doi: 10.1212/01.wnl.0000261254.87181.80. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377071
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC. Benedetti S, et al. J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1019-21. doi: 10.1136/jnnp.2004.046110. J Neurol Neurosurg Psychiatry. 2005. PMID: 15965218 Free PMC article.
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. D'Amico A, et al. Among authors: benedetti s. Neuromuscul Disord. 2005 Aug;15(8):521-4. doi: 10.1016/j.nmd.2005.03.006. Neuromuscul Disord. 2005. PMID: 15961312
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D. Vytopil M, et al. Among authors: benedetti s. J Med Genet. 2003 Dec;40(12):e132. doi: 10.1136/jmg.40.12.e132. J Med Genet. 2003. PMID: 14684700 Free PMC article. No abstract available.
Co-segregation of LMNA and PMP22 gene mutations in the same family.
Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C. Pegoraro E, et al. Among authors: benedetti s. Neuromuscul Disord. 2005 Dec;15(12):858-62. doi: 10.1016/j.nmd.2005.08.008. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288874
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G, Di Resta C, Perversi J, Forleo C, Maggi L, Politano L, Barison A, Previtali SC, Carboni N, Brun F, Pegoraro E, D'Amico A, Rodolico C, Magri F, Manzi RC, Palladino A, Isola F, Gigli L, Mongini TE, Semplicini C, Calore C, Ricci G, Comi GP, Ruggiero L, Bertini E, Bonomo P, Nigro G, Resta N, Emdin M, Favale S, Siciliano G, Santoro L, Sinagra G, Limongelli G, Ambrosi A, Ferrari M, Golzio PG, Bella PD, Benedetti S, Sala S; Italian Network for Laminopathies (NIL). Peretto G, et al. Among authors: benedetti s. Ann Intern Med. 2019 Oct 1;171(7):458-463. doi: 10.7326/M18-2768. Epub 2019 Sep 3. Ann Intern Med. 2019. PMID: 31476771
297 results