Di Fruscio G - Search Results

1

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

2

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.

3

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.

4

Familial trisomy 6p in mother and daughter.

Savarese M, Grandone A, Perone L, Blanco Fdel V, De Luca G, Di Fruscio G, Fogu G, Piluso G, Perrone L, del Giudice EM, Nigro V. Savarese M, et al. Among authors: di fruscio g. Am J Med Genet A. 2013 Jul;161A(7):1675-81. doi: 10.1002/ajmg.a.35928. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23687068

5

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

6

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.

7

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

8

Dominant muscular dystrophy with a novel SYNE1 gene mutation.

Fanin M, Savarese M, Nascimbeni AC, Di Fruscio G, Pastorello E, Tasca E, Trevisan CP, Nigro V, Angelini C. Fanin M, et al. Among authors: di fruscio g. Muscle Nerve. 2015 Jan;51(1):145-7. doi: 10.1002/mus.24357. Epub 2014 Nov 24. Muscle Nerve. 2015. PMID: 25091525 No abstract available.

9

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

10

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M, Di Fruscio G, Mutarelli M, Torella A, Magri F, Santorelli FM, Comi GP, Bruno C, Nigro V. Savarese M, et al. Among authors: di fruscio g. Acta Neuropathol Commun. 2014 Sep 11;2:100. doi: 10.1186/s40478-014-0100-3. Acta Neuropathol Commun. 2014. PMID: 25214167 Free PMC article.

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