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619 results

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Page 1
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A. Brioschi S, et al. Among authors: siciliano g. BMC Med Genet. 2012 Aug 16;13:73. doi: 10.1186/1471-2350-13-73. BMC Med Genet. 2012. PMID: 22894145 Free PMC article.
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
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. Among authors: siciliano g. J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29. J Neurol. 2014. PMID: 24375076
Myoclonus in mitochondrial disorders.
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: siciliano g. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7. Mov Disord. 2014. PMID: 24510442
LMNA-associated myopathies: the Italian experience in a large cohort of patients.
Maggi L, D'Amico A, Pini A, Sivo S, Pane M, Ricci G, Vercelli L, D'Ambrosio P, Travaglini L, Sala S, Brenna G, Kapetis D, Scarlato M, Pegoraro E, Ferrari M, Toscano A, Benedetti S, Bernasconi P, Colleoni L, Lattanzi G, Bertini E, Mercuri E, Siciliano G, Rodolico C, Mongini T, Politano L, Previtali SC, Carboni N, Mantegazza R, Morandi L. Maggi L, et al. Among authors: siciliano g. Neurology. 2014 Oct 28;83(18):1634-44. doi: 10.1212/WNL.0000000000000934. Epub 2014 Oct 1. Neurology. 2014. PMID: 25274841
Redefining phenotypes associated with mitochondrial DNA single deletion.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: siciliano g. J Neurol. 2015 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Epub 2015 Mar 26. J Neurol. 2015. PMID: 25808502
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: siciliano g. J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. J Neurol. 2015. PMID: 26566910 No abstract available.
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: siciliano g. Neuromuscul Disord. 2016 Apr-May;26(4-5):272-6. doi: 10.1016/j.nmd.2016.02.008. Epub 2016 Feb 23. Neuromuscul Disord. 2016. PMID: 27020842 Free article.
619 results