Blasi P - Search Results

1

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.

Blasi P, Palmerio F, Caldarola S, Rizzo C, Carrozzo R, Gibson KM, Novelletto A, Deodato F, Cappa M, Dioni-Vici C, Malaspina P. Blasi P, et al. Clin Genet. 2006 Mar;69(3):294-6. doi: 10.1111/j.1399-0004.2006.00579.x. Clin Genet. 2006. PMID: 16542398 No abstract available.

2

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.

Blasi P, Boyl PP, Ledda M, Novelletto A, Gibson KM, Jakobs C, Hogema B, Akaboshi S, Loreni F, Malaspina P. Blasi P, et al. Mol Genet Metab. 2002 Aug;76(4):348-62. doi: 10.1016/s1096-7192(02)00105-1. Mol Genet Metab. 2002. PMID: 12208142

3

Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family.

Lemes A, Blasi P, Gonzales G, Russi ME, Quadrelli R, Novelletto A, Malaspina P. Lemes A, et al. Among authors: blasi p. J Inherit Metab Dis. 2006 Aug;29(4):587. doi: 10.1007/s10545-006-0277-0. Epub 2006 Jun 19. J Inherit Metab Dis. 2006. PMID: 16788854

4

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.

Di Rosa G, Malaspina P, Blasi P, Dionisi-Vici C, Rizzo C, Tortorella G, Crutchfield SR, Gibson KM. Di Rosa G, et al. Among authors: blasi p. J Inherit Metab Dis. 2009 Dec;32 Suppl 1(Suppl 1):S201-5. doi: 10.1007/s10545-009-1154-4. Epub 2009 May 30. J Inherit Metab Dis. 2009. PMID: 19484191 Free PMC article.

5

SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions.

Blasi P, Palmerio F, Aiello A, Rocchi M, Malaspina P, Novelletto A. Blasi P, et al. J Mol Evol. 2006 Jul;63(1):54-68. doi: 10.1007/s00239-005-0154-8. Epub 2006 Jun 17. J Mol Evol. 2006. PMID: 16786440 Free article.

6

A human derived SSADH coding variant is replacing the ancestral allele shared with primates.

Leone O, Blasi P, Palmerio F, Kozlov AI, Malaspina P, Novelletto A. Leone O, et al. Among authors: blasi p. Ann Hum Biol. 2006 Sep-Dec;33(5-6):593-603. doi: 10.1080/03014460601035748. Ann Hum Biol. 2006. PMID: 17381057 Free article.

7

Disequilibrium of multiple DNA markers on the human Y chromosome.

Persichetti F, Blasi P, Hammer M, Malaspina P, Jodice C, Terrenato L, Novelletto A. Persichetti F, et al. Among authors: blasi p. Ann Hum Genet. 1992 Oct;56(4):303-10. doi: 10.1111/j.1469-1809.1992.tb01157.x. Ann Hum Genet. 1992. PMID: 1492745

8

Ordering of 44 genetic markers in the 6p22 cytogenetic band.

Trettel F, Malaspina P, Blasi P, Jodice C, Novelletto A, Sabbadini G, Veneziano L, Frontali M, Terrenato L. Trettel F, et al. Among authors: blasi p. DNA Seq. 1996;7(1):51-2. doi: 10.3109/10425179609015648. DNA Seq. 1996. PMID: 9063639 No abstract available.

9

Construction of a YAC contig covering human chromosome 6p22.

Malaspina P, Roetto A, Trettel F, Jodice C, Blasi P, Frontali M, Carella M, Franco B, Camaschella C, Novelletto A. Malaspina P, et al. Among authors: blasi p. Genomics. 1996 Sep 15;36(3):399-407. doi: 10.1006/geno.1996.0484. Genomics. 1996. PMID: 8884262 Free article.

10

Linkage exclusion in Italian families with hereditary essential tremor.

Novelletto A, Gulli R, Ciotti P, Vitale C, Malaspina P, Blasi P, Pippucci T, Seri M, Cozzolino A, Bilo L, Abbruzzese G, Martinelli P, Bellone E, Barone P, Mandich P. Novelletto A, et al. Among authors: blasi p. Eur J Neurol. 2011 Sep;18(9):e118-20. doi: 10.1111/j.1468-1331.2011.03458.x. Eur J Neurol. 2011. PMID: 21834898 No abstract available.

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