Rigoli L - Search Results

1

Wolfram Syndrome 1: From Genetics to Therapy.

Rigoli L, Caruso V, Salzano G, Lombardo F. Rigoli L, et al. Int J Environ Res Public Health. 2022 Mar 9;19(6):3225. doi: 10.3390/ijerph19063225. Int J Environ Res Public Health. 2022. PMID: 35328914 Free PMC article. Review.

2

Wolfram syndrome and WFS1 gene.

Rigoli L, Lombardo F, Di Bella C. Rigoli L, et al. Clin Genet. 2011 Feb;79(2):103-17. doi: 10.1111/j.1399-0004.2010.01522.x. Epub 2010 Aug 26. Clin Genet. 2011. PMID: 20738327 Review.

3

Wolfram syndrome 1 and Wolfram syndrome 2.

Rigoli L, Di Bella C. Rigoli L, et al. Curr Opin Pediatr. 2012 Aug;24(4):512-7. doi: 10.1097/MOP.0b013e328354ccdf. Curr Opin Pediatr. 2012. PMID: 22790102 Review.

4

Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.

Rigoli L, Lombardo F, Salzano G, Di Bella C, Messina MF, De Luca F, Iafusco D. Rigoli L, et al. Gene. 2013 Sep 10;526(2):487-9. doi: 10.1016/j.gene.2012.10.023. Epub 2012 Oct 26. Gene. 2013. PMID: 23103830

5

Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected.

Lombardo F, Salzano G, Di Bella C, Aversa T, Pugliatti F, Cara S, Valenzise M, De Luca F, Rigoli L. Lombardo F, et al. Among authors: rigoli l. J Endocrinol Invest. 2014 Feb;37(2):195-202. doi: 10.1007/s40618-013-0039-4. Epub 2014 Jan 9. J Endocrinol Invest. 2014. PMID: 24497219

6

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.

Rigoli L, Bramanti P, Di Bella C, De Luca F. Rigoli L, et al. Pediatr Res. 2018 May;83(5):921-929. doi: 10.1038/pr.2018.17. Epub 2018 Feb 28. Pediatr Res. 2018. PMID: 29774890 Review.

7

Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.

Rigoli L, Aloi C, Salina A, Di Bella C, Salzano G, Caruso R, Mazzon E, Maghnie M, Patti G, D'Annunzio G, Lombardo F. Rigoli L, et al. Pediatr Res. 2020 Feb;87(3):456-462. doi: 10.1038/s41390-019-0487-4. Epub 2019 Jul 2. Pediatr Res. 2020. PMID: 31266054

8

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Salzano G, Rigoli L, Valenzise M, Chimenz R, Passanisi S, Lombardo F. Salzano G, et al. Among authors: rigoli l. Int J Environ Res Public Health. 2022 Jan 4;19(1):520. doi: 10.3390/ijerph19010520. Int J Environ Res Public Health. 2022. PMID: 35010780 Free PMC article.

9

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.

Rigoli L, Caruso V, Aloi C, Salina A, Maghnie M, d'Annunzio G, Lamacchia O, Salzano G, Lombardo F, Picca G. Rigoli L, et al. Int J Environ Res Public Health. 2022 Feb 21;19(4):2473. doi: 10.3390/ijerph19042473. Int J Environ Res Public Health. 2022. PMID: 35206658 Free PMC article.

10

Ultrastructural Evidence of Eosinophil Clustering and ETosis in Association with Damage to Single Tumour Cells in a Case of Poorly Cohesive NOS Gastric Carcinoma.

Caruso R, Caruso V, Rigoli L. Caruso R, et al. Among authors: rigoli l. Eur J Case Rep Intern Med. 2023 Aug 31;10(10):004016. doi: 10.12890/2023_004016. eCollection 2023. Eur J Case Rep Intern Med. 2023. PMID: 37789981 Free PMC article.

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