Malaspina 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. Among authors: malaspina p. 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

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: malaspina 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

3

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

Jodice C, Malaspina P, Persichetti F, Novelletto A, Spadaro M, Giunti P, Morocutti C, Terrenato L, Harding AE, Frontali M. Jodice C, et al. Among authors: malaspina p. Am J Hum Genet. 1994 Jun;54(6):959-65. Am J Hum Genet. 1994. PMID: 8198139 Free PMC article.

4

The geographic distribution of human Y chromosome variation.

Hammer MF, Spurdle AB, Karafet T, Bonner MR, Wood ET, Novelletto A, Malaspina P, Mitchell RJ, Horai S, Jenkins T, Zegura SL. Hammer MF, et al. Among authors: malaspina p. Genetics. 1997 Mar;145(3):787-805. doi: 10.1093/genetics/145.3.787. Genetics. 1997. PMID: 9055088 Free PMC article.

5

Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization.

Trettel F, Malaspina P, Jodice C, Novelletto A, Slaughter CA, Caudle DL, Hinson DD, Chambliss KL, Gibson KM. Trettel F, et al. Among authors: malaspina p. Adv Exp Med Biol. 1997;414:253-60. Adv Exp Med Biol. 1997. PMID: 9059628 No abstract available.

6

Y-chromosome STR loci in Sardinia and continental Italy reveal islander-specific haplotypes.

Caglià A, Novelletto A, Dobosz M, Malaspina P, Ciminelli BM, Pascali VL. Caglià A, et al. Among authors: malaspina p. Eur J Hum Genet. 1997 Sep-Oct;5(5):288-92. Eur J Hum Genet. 1997. PMID: 9412785

7

Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM. Chambliss KL, et al. Among authors: malaspina p. Am J Hum Genet. 1998 Aug;63(2):399-408. doi: 10.1086/301964. Am J Hum Genet. 1998. PMID: 9683595 Free PMC article.

8

Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region.

Stefan M, Stefanescu G, Gavrila L, Terrenato L, Jobling MA, Malaspina P, Novelletto A. Stefan M, et al. Among authors: malaspina p. Eur J Hum Genet. 2001 Jan;9(1):27-33. doi: 10.1038/sj.ejhg.5200580. Eur J Hum Genet. 2001. PMID: 11175296

9

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. Among authors: malaspina p. Mol Genet Metab. 2002 Aug;76(4):348-62. doi: 10.1016/s1096-7192(02)00105-1. Mol Genet Metab. 2002. PMID: 12208142

10

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM. Akaboshi S, et al. Among authors: malaspina p. Hum Mutat. 2003 Dec;22(6):442-50. doi: 10.1002/humu.10288. Hum Mutat. 2003. PMID: 14635103

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