Frisso G - Search Results

1

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.

Cappuccio G, Cozzolino C, Frisso G, Romanelli R, Parenti G, D'Amico A, Carotenuto B, Salvatore F, Del Giudice E. Cappuccio G, et al. Among authors: frisso g. Neurology. 2014 Jul 15;83(3):e41-4. doi: 10.1212/WNL.0000000000000591. Neurology. 2014. PMID: 25024447 No abstract available.

2

Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies.

Lioncino M, Monda E, Caiazza M, Simonelli V, Nesti C, Mauriello A, Budillon A, Di Santo A, Bruno G, Varone A, Nigro V, Santorelli FM, Pacileo G, Russo MG, Frisso G, Sampaolo S, Limongelli G. Lioncino M, et al. Among authors: frisso g. Circ Genom Precis Med. 2023 Aug;16(4):412-414. doi: 10.1161/CIRCGEN.123.004122. Epub 2023 May 17. Circ Genom Precis Med. 2023. PMID: 37194584 No abstract available.

3

Multimodality Imaging in Arrhythmogenic Left Ventricular Cardiomyopathy.

Monda E, Rubino M, Palmiero G, Verrillo F, Lioncino M, Diana G, Cirillo A, Fusco A, Dongiglio F, Caiazza M, Altobelli I, Mauriello A, Guarnaccia N, Scatteia A, Cesaro A, Pacileo G, Sarubbi B, Frisso G, Bauce B, D'Andrea A, Dellegrottaglie S, Russo MG, Calabrò P, Limongelli G. Monda E, et al. Among authors: frisso g. J Clin Med. 2023 Feb 16;12(4):1568. doi: 10.3390/jcm12041568. J Clin Med. 2023. PMID: 36836107 Free PMC article. Review.

4

Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.

Pastore L, Della Morte R, Frisso G, Alfinito F, Vitale D, Calise RM, Ferraro F, Zagari A, Rotoli B, Salvatore F. Pastore L, et al. Among authors: frisso g. Hum Mutat. 1998;11(2):127-34. doi: 10.1002/(SICI)1098-1004(1998)11:2<127::AID-HUMU5>3.0.CO;2-G. Hum Mutat. 1998. PMID: 9482576

5

Dystrophinopathy in a young boy with Klinefelter's syndrome.

Santoro L, Pastore L, Rippa PG, Orsini AV, Del Giudice E, Vita G, Frisso G, Salvatore F. Santoro L, et al. Among authors: frisso g. Muscle Nerve. 1998 Jun;21(6):792-5. doi: 10.1002/(sici)1097-4598(199806)21:6<792::aid-mus12>3.0.co;2-v. Muscle Nerve. 1998. PMID: 9585334

6

Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy.

Frisso G, Sampaolo S, Pastore L, Carlomagno A, Calise RM, Di Iorio G, Salvatore F. Frisso G, et al. Neuromuscul Disord. 2002 Jun;12(5):494-7. doi: 10.1016/s0960-8966(01)00323-6. Neuromuscul Disord. 2002. PMID: 12031623

7

Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy.

Frisso G, Carsana A, Tinto N, Calcagno G, Salvatore F, Sacchetti L. Frisso G, et al. Clin Chem. 2004 Aug;50(8):1435-8. doi: 10.1373/clinchem.2004.033795. Clin Chem. 2004. PMID: 15277355 Free article. No abstract available.

8

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.

Carsana A, Frisso G, Tremolaterra MR, Lanzillo R, Vitale DF, Santoro L, Salvatore F. Carsana A, et al. Among authors: frisso g. Ann Hum Genet. 2005 May;69(Pt 3):253-9. doi: 10.1046/j.1529-8817.2005.00160.x. Ann Hum Genet. 2005. PMID: 15845029

9

A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.

Carsana A, Frisso G, Tremolaterra MR, Ricci E, De Rasmo D, Salvatore F. Carsana A, et al. Among authors: frisso g. J Mol Diagn. 2007 Feb;9(1):64-9. doi: 10.2353/jmoldx.2007.060056. J Mol Diagn. 2007. PMID: 17251337 Free PMC article.

10

Microbial diversity in natural whey cultures used for the production of Caciocavallo Silano PDO cheese.

Ercolini D, Frisso G, Mauriello G, Salvatore F, Coppola S. Ercolini D, et al. Among authors: frisso g. Int J Food Microbiol. 2008 May 31;124(2):164-70. doi: 10.1016/j.ijfoodmicro.2008.03.007. Epub 2008 Mar 27. Int J Food Microbiol. 2008. PMID: 18455822

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