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Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.
Orsucci D, Petrucci L, Ienco EC, Chico L, Simi P, Fogli A, Baldinotti F, Simoncini C, LoGerfo A, Carlesi C, Arnoldi A, Bassi MT, Siciliano G, Bonuccelli U, Mancuso M. Orsucci D, et al. Among authors: mancuso m. Clin Neurol Neurosurg. 2014 May;120:14-9. doi: 10.1016/j.clineuro.2014.02.002. Epub 2014 Feb 17. Clin Neurol Neurosurg. 2014. PMID: 24731568
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. Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1. Neurology. 2013. PMID: 23635963
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29. J Neurol. 2014. PMID: 24375076
A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
Piazza S, Baldinotti F, Fogli A, Conidi ME, Michelucci A, Ienco EC, Mancuso M, Simi P, Siciliano G. Piazza S, et al. Among authors: mancuso m. Neuromuscul Disord. 2010 Dec;20(12):817-9. doi: 10.1016/j.nmd.2010.08.003. Epub 2010 Sep 17. Neuromuscul Disord. 2010. PMID: 20850974
1,069 results