Parodi S - Search Results

1

A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.

Parodi S, Baglietto MP, Pini Prato A, Caroli F, Garaventa A, Ceccherini I, Ottonello G. Parodi S, et al. Pediatr Pulmonol. 2008 Oct;43(10):1036-9. doi: 10.1002/ppul.20892. Pediatr Pulmonol. 2008. PMID: 18785257

2

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

Bachetti T, Robbiano A, Parodi S, Matera I, Merello E, Capra V, Baglietto MP, Rossi A, Ceccherini I, Ottonello G. Bachetti T, et al. Among authors: parodi s. Am J Respir Crit Care Med. 2006 Sep 15;174(6):706-9. doi: 10.1164/rccm.200602-266CR. Epub 2006 Jun 8. Am J Respir Crit Care Med. 2006. PMID: 16763219

3

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Parodi S, Bachetti T, Lantieri F, Di Duca M, Santamaria G, Ottonello G, Matera I, Ravazzolo R, Ceccherini I. Parodi S, et al. Hum Mutat. 2008 Jan;29(1):206. doi: 10.1002/humu.9516. Hum Mutat. 2008. PMID: 18157832

4

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

Bachetti T, Parodi S, Di Duca M, Santamaria G, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: parodi s. J Mol Med (Berl). 2011 May;89(5):505-13. doi: 10.1007/s00109-010-0718-y. Epub 2011 Feb 19. J Mol Med (Berl). 2011. PMID: 21336852

5

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.

Di Zanni E, Bachetti T, Parodi S, Bocca P, Prigione I, Di Lascio S, Fornasari D, Ravazzolo R, Ceccherini I. Di Zanni E, et al. Among authors: parodi s. Neurobiol Dis. 2012 Jan;45(1):508-18. doi: 10.1016/j.nbd.2011.09.007. Epub 2011 Sep 21. Neurobiol Dis. 2012. PMID: 21964250

6

The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.

Parodi S, Di Zanni E, Di Lascio S, Bocca P, Prigione I, Fornasari D, Pennuto M, Bachetti T, Ceccherini I. Parodi S, et al. J Mol Med (Berl). 2012 Sep;90(9):1025-35. doi: 10.1007/s00109-012-0868-1. Epub 2012 Feb 4. J Mol Med (Berl). 2012. PMID: 22307522

7

Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences.

Musso M, Bocciardi R, Parodi S, Ravazzolo R, Ceccherini I. Musso M, et al. Among authors: parodi s. J Mol Diagn. 2006 Nov;8(5):544-50. doi: 10.2353/jmoldx.2006.060058. J Mol Diagn. 2006. PMID: 17065422 Free PMC article.

8

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH. Rinaldi C, et al. Among authors: parodi s. JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. JAMA Neurol. 2015. PMID: 25751282 Free PMC article.

9

Neurotoxic effects of androgens in spinal and bulbar muscular atrophy.

Parodi S, Pennuto M. Parodi S, et al. Front Neuroendocrinol. 2011 Oct;32(4):416-25. doi: 10.1016/j.yfrne.2011.06.003. Epub 2011 Jul 1. Front Neuroendocrinol. 2011. PMID: 21745497 Free article. Review.

10

Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.

Scaramuzzino C, Casci I, Parodi S, Lievens PMJ, Polanco MJ, Milioto C, Chivet M, Monaghan J, Mishra A, Badders N, Aggarwal T, Grunseich C, Sambataro F, Basso M, Fackelmayer FO, Taylor JP, Pandey UB, Pennuto M. Scaramuzzino C, et al. Among authors: parodi s. Neuron. 2015 Jan 7;85(1):88-100. doi: 10.1016/j.neuron.2014.12.031. Neuron. 2015. PMID: 25569348 Free PMC article.

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