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1,185 results

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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Ronchi D, et al. Among authors: villa l. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4. Brain. 2012. PMID: 23043144 Free PMC article.
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, Lucchini V, Colombo I, Villa L, Berardinelli A, Balottin U, Morandi L, Mora M, Bordoni A, Fortunato F, Corti S, Parisi D, Toscano A, Sciacco M, DiMauro S, Comi GP, Moggio M. Ripolone M, et al. Among authors: villa l. JAMA Neurol. 2015 Jun;72(6):666-75. doi: 10.1001/jamaneurol.2015.0178. JAMA Neurol. 2015. PMID: 25844556 Free PMC article.
Mitochondrial disease heterogeneity: a prognostic challenge.
Moggio M, Colombo I, Peverelli L, Villa L, Xhani R, Testolin S, Di Mauro S, Sciacco M. Moggio M, et al. Among authors: villa l. Acta Myol. 2014 Oct;33(2):86-93. Acta Myol. 2014. PMID: 25709378 Free PMC article.
A case report with the peculiar concomitance of 2 different genetic syndromes.
Lerario A, Colombo I, Milani D, Peverelli L, Villa L, Del Bo R, Sciacco M, Comi GP, Esposito S, Moggio M. Lerario A, et al. Among authors: villa l. Medicine (Baltimore). 2016 Dec;95(49):e5567. doi: 10.1097/MD.0000000000005567. Medicine (Baltimore). 2016. PMID: 27930565 Free PMC article. Review.
Immune-mediated necrotizing myopathy due to statins exposure.
Villa L, Lerario A, Calloni S, Peverelli L, Matinato C, DE Liso F, Ceriotti F, Tironi R, Sciacco M, Moggio M, Triulzi F, Cinnante C. Villa L, et al. Acta Myol. 2018 Dec 1;37(4):257-262. eCollection 2018 Dec. Acta Myol. 2018. PMID: 30944904 Free PMC article.
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
Ricci G, Ruggiero L, Vercelli L, Sera F, Nikolic A, Govi M, Mele F, Daolio J, Angelini C, Antonini G, Berardinelli A, Bucci E, Cao M, D'Amico MC, D'Angelo G, Di Muzio A, Filosto M, Maggi L, Moggio M, Mongini T, Morandi L, Pegoraro E, Rodolico C, Santoro L, Siciliano G, Tomelleri G, Villa L, Tupler R. Ricci G, et al. Among authors: villa l. J Neurol. 2016 Jun;263(6):1204-14. doi: 10.1007/s00415-016-8123-2. Epub 2016 Apr 28. J Neurol. 2016. PMID: 27126453 Free PMC article.
A 5-year clinical follow-up study from the Italian National Registry for FSHD.
Vercelli L, Mele F, Ruggiero L, Sera F, Tripodi S, Ricci G, Vallarola A, Villa L, Govi M, Maranda L, Di Muzio A, Scarlato M, Bucci E, Maggi L, Rodolico C, Moggio M, Filosto M, Antonini G, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Siciliano G, Tomelleri G, Santoro L, Mongini T, Tupler R. Vercelli L, et al. Among authors: villa l. J Neurol. 2021 Jan;268(1):356-366. doi: 10.1007/s00415-020-10144-7. Epub 2020 Aug 19. J Neurol. 2021. PMID: 32813049 Free PMC article.
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: villa l. JAMA Netw Open. 2020 May 1;3(5):e204040. doi: 10.1001/jamanetworkopen.2020.4040. JAMA Netw Open. 2020. PMID: 32356886 Free PMC article.
1,185 results