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273 results

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Page 1
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: ruggiero l. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
Electrophysiological characterisation in hereditary spastic paraplegia type 5.
Manganelli F, Pisciotta C, Dubbioso R, Iodice R, Criscuolo C, Ruggiero L, De Michele G, Santoro L. Manganelli F, et al. Among authors: ruggiero l. Clin Neurophysiol. 2011 Apr;122(4):819-22. doi: 10.1016/j.clinph.2010.10.025. Epub 2010 Dec 15. Clin Neurophysiol. 2011. PMID: 21111673
Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy.
Manganelli F, Dubbioso R, Nolano M, Iodice R, Pisciotta C, Provitera V, Ruggiero L, Serlenga L, Barbieri F, Santoro L. Manganelli F, et al. Among authors: ruggiero l. Arch Neurol. 2011 Apr;68(4):504-7. doi: 10.1001/archneurol.2011.60. Arch Neurol. 2011. PMID: 21482929
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Scionti I, et al. Among authors: ruggiero l. Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019. Am J Hum Genet. 2012. PMID: 22482803 Free PMC article.
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R. Ricci G, et al. Among authors: ruggiero l. Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11. Brain. 2013. PMID: 24030947 Free PMC article.
A rare mutation in MYH7 gene occurs with overlapping phenotype.
Ruggiero L, Fiorillo C, Gibertini S, De Stefano F, Manganelli F, Iodice R, Vitale F, Zanotti S, Galderisi M, Mora M, Santoro L. Ruggiero L, et al. Biochem Biophys Res Commun. 2015 Feb 13;457(3):262-6. doi: 10.1016/j.bbrc.2014.12.098. Epub 2015 Jan 7. Biochem Biophys Res Commun. 2015. PMID: 25576864
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V. Savarese M, et al. Among authors: ruggiero l. Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30. Neuromuscul Disord. 2015. PMID: 25891276 Free PMC article.
273 results