Di Fruscio G - Search Results

1

Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex.

Di Fruscio G, Banfi S, Nigro V, Ballabio A. Di Fruscio G, et al. Methods Mol Biol. 2017;1594:227-241. doi: 10.1007/978-1-4939-6934-0_15. Methods Mol Biol. 2017. PMID: 28456987

2

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A. Di Fruscio G, et al. Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077. Autophagy. 2015. PMID: 26075876 Free PMC article.

3

Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments.

Ferraro MB, Savarese M, Di Fruscio G, Nigro V, Guarracino MR. Ferraro MB, et al. Among authors: di fruscio g. J Comput Biol. 2014 Sep;21(9):665-75. doi: 10.1089/cmb.2014.0037. Epub 2014 Jul 16. J Comput Biol. 2014. PMID: 25029289

4

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.

5

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Di Iorio V, Karali M, Brunetti-Pierri R, Filippelli M, Di Fruscio G, Pizzo M, Mutarelli M, Nigro V, Testa F, Banfi S, Simonelli F. Di Iorio V, et al. Among authors: di fruscio g. Genes (Basel). 2017 Oct 20;8(10):280. doi: 10.3390/genes8100280. Genes (Basel). 2017. PMID: 29053603 Free PMC article.

6

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: di fruscio g. 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.

7

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.

8

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R. Motta M, et al. Among authors: di fruscio g. Clin Genet. 2016 Sep;90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19. Clin Genet. 2016. PMID: 26831127

9

Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant.

Savarese M, Spinelli E, Gandolfo F, Lemma V, Di Fruscio G, Padoan R, Morescalchi F, D'Agostino M, Savoldi G, Semeraro F, Nigro V, Bonatti S. Savarese M, et al. Among authors: di fruscio g. Ophthalmic Genet. 2014 Sep;35(3):184-6. doi: 10.3109/13816810.2013.811270. Epub 2013 Jul 8. Ophthalmic Genet. 2014. PMID: 23834558

10

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V. Di Fruscio G, et al. Eur J Hum Genet. 2016 Jan;24(1):73-7. doi: 10.1038/ejhg.2015.76. Epub 2015 Apr 22. Eur J Hum Genet. 2016. PMID: 25898921 Free PMC article.

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