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Year Number of Results
2012 1
2013 2
2014 4
2015 5
2016 3
2017 4
2018 2
2021 1
2024 0

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18 results

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Page 1
KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal Cancer.
Ottaiano A, Nasti G, Santorsola M, Altieri V, Di Fruscio G, Circelli L, Luce A, Cossu AM, Scognamiglio G, Perri F, Correra M, Belli A, Delrio P, Botti G, Caraglia M. Ottaiano A, et al. Among authors: di fruscio g. Front Oncol. 2021 Mar 29;11:632962. doi: 10.3389/fonc.2021.632962. eCollection 2021. Front Oncol. 2021. PMID: 33854968 Free PMC article.
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V. Savarese M, et al. Among authors: di fruscio g. Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9. Neuromuscul Disord. 2018. PMID: 29880332 Free article.
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: di fruscio g. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S. Testa F, et al. Among authors: di fruscio g. Eur J Hum Genet. 2017 May;25(5):651-655. doi: 10.1038/ejhg.2017.23. Epub 2017 Mar 8. Eur J Hum Genet. 2017. PMID: 28272537 Free PMC article.
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'angelo MG, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP. Magri F, et al. Among authors: fruscio gd. Muscle Nerve. 2017 Jan;55(1):55-68. doi: 10.1002/mus.25192. Epub 2016 Oct 28. Muscle Nerve. 2017. PMID: 27184587 Free article.
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. Savarese M, et al. Among authors: di fruscio g. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281536 Free PMC article.
[Next Generation Sequencing and ADPKD].
Restivo A, Di Fruscio G, Masella C, Rinaldi L, Capolongo G, Raiola I, Capasso G. Restivo A, et al. Among authors: di fruscio g. G Ital Nefrol. 2015 Dec;35(Suppl 71):2018-supp71. G Ital Nefrol. 2015. PMID: 29710438 Italian.
18 results