Piemonte F - Search Results

1

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: piemonte f. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.

2

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: piemonte f. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414

3

OXPHOS and mtDNA alterations in a family with spastic paraparesis.

Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Among authors: piemonte f. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522

4

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.

Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E. Francalanci P, et al. Among authors: piemonte f. Neurology. 2001 Jul 24;57(2):265-70. doi: 10.1212/wnl.57.2.265. Neurology. 2001. PMID: 11468311

5

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation.

Santorelli FM, Gagliardi MG, Dionisi-Vici C, Parisi F, Tessa A, Carrozzo R, Piemonte F, Pfeiffer K, Schägger H, Bertini E. Santorelli FM, et al. Among authors: piemonte f. Neuromuscul Disord. 2002 Jan;12(1):56-9. doi: 10.1016/s0960-8966(01)00248-6. Neuromuscul Disord. 2002. PMID: 11731286

6

Determination of superoxide dismutase and glutathione peroxidase activities in blood of healthy pediatric subjects.

Gaeta LM, Tozzi G, Pastore A, Federici G, Bertini E, Piemonte F. Gaeta LM, et al. Among authors: piemonte f. Clin Chim Acta. 2002 Aug;322(1-2):117-20. doi: 10.1016/s0009-8981(02)00163-8. Clin Chim Acta. 2002. PMID: 12104090

7

Determination of glutathionyl-hemoglobin in human erythrocytes by cation-exchange high-performance liquid chromatography.

Pastore A, Mozzi AF, Tozzi G, Gaeta LM, Federici G, Bertini E, Lo Russo A, Mannucci L, Piemonte F. Pastore A, et al. Among authors: piemonte f. Anal Biochem. 2003 Jan 15;312(2):85-90. doi: 10.1016/s0003-2697(02)00500-6. Anal Biochem. 2003. PMID: 12531191

8

Glutathione metabolism and antioxidant enzymes in children with Down syndrome.

Pastore A, Tozzi G, Gaeta LM, Giannotti A, Bertini E, Federici G, Digilio MC, Piemonte F. Pastore A, et al. Among authors: piemonte f. J Pediatr. 2003 May;142(5):583-5. doi: 10.1067/mpd.2003.203. J Pediatr. 2003. PMID: 12756395

9

Analysis of glutathione: implication in redox and detoxification.

Pastore A, Federici G, Bertini E, Piemonte F. Pastore A, et al. Among authors: piemonte f. Clin Chim Acta. 2003 Jul 1;333(1):19-39. doi: 10.1016/s0009-8981(03)00200-6. Clin Chim Acta. 2003. PMID: 12809732 Review.

10

Glutathione metabolism and antioxidant enzymes in patients affected by nonalcoholic steatohepatitis.

Nobili V, Pastore A, Gaeta LM, Tozzi G, Comparcola D, Sartorelli MR, Marcellini M, Bertini E, Piemonte F. Nobili V, et al. Among authors: piemonte f. Clin Chim Acta. 2005 May;355(1-2):105-11. doi: 10.1016/j.cccn.2004.12.022. Clin Chim Acta. 2005. PMID: 15820484

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