Antonozzi I - Search Results

1

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

Carducci C, Leuzzi V, Scuderi M, De Negri AM, Gabrieli CB, Antonozzi I, Pontecorvi A. Carducci C, et al. Among authors: antonozzi i. Hum Genet. 1991 Oct;87(6):725-7. doi: 10.1007/BF00201733. Hum Genet. 1991. PMID: 1937476

2

Screening of mtDNA mutations in Italian LHON pedigrees.

Carducci C, De Negri AM, Leuzzi V, Terregino C, Torella M, Pivetti Pezzi P, Antonozzi I. Carducci C, et al. Among authors: antonozzi i. J Inherit Metab Dis. 1996;19(2):127-9. doi: 10.1007/BF01799410. J Inherit Metab Dis. 1996. PMID: 8739946 No abstract available.

3

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.

Leuzzi V, Carducci C, Carducci C, Matricardi M, Bianchi MC, Di Sabato ML, Artiola C, Antonozzi I. Leuzzi V, et al. Among authors: antonozzi i. Mol Genet Metab. 2006 Jan;87(1):88-90. doi: 10.1016/j.ymgme.2005.09.017. Epub 2005 Nov 15. Mol Genet Metab. 2006. PMID: 16293431

4

Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease.

Terregino C, Cardona F, Barbetti F, Antonozzi I, Carducci C. Terregino C, et al. Among authors: antonozzi i. J Inherit Metab Dis. 1996;19(2):197-200. doi: 10.1007/BF01799428. J Inherit Metab Dis. 1996. PMID: 8739964 No abstract available.

5

Two new severe mutations causing guanidinoacetate methyltransferase deficiency.

Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I. Carducci C, et al. Among authors: antonozzi i. Mol Genet Metab. 2000 Dec;71(4):633-8. doi: 10.1006/mgme.2000.3108. Mol Genet Metab. 2000. PMID: 11136556

6

DNA elution and amplification by polymerase chain reaction from dried blood spots.

Carducci C, Ellul L, Antonozzi I, Pontecorvi A. Carducci C, et al. Among authors: antonozzi i. Biotechniques. 1992 Nov;13(5):735-7. Biotechniques. 1992. PMID: 1418975

7

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I. Leuzzi V, et al. Among authors: antonozzi i. Neurology. 2002 Oct 22;59(8):1241-3. doi: 10.1212/wnl.59.8.1241. Neurology. 2002. PMID: 12391354

8

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N. Leuzzi V, et al. Among authors: antonozzi i. Clin Genet. 2010 Mar;77(3):249-57. doi: 10.1111/j.1399-0004.2009.01306.x. Epub 2009 Jan 3. Clin Genet. 2010. PMID: 20059486

9

Simultaneous high-performance liquid chromatographic determination of amino acids in a dried blood spot as a neonatal screening test.

Moretti F, Birarelli M, Carducci C, Pontecorvi A, Antonozzi I. Moretti F, et al. Among authors: antonozzi i. J Chromatogr. 1990 Jul 6;511:131-6. doi: 10.1016/s0021-9673(01)93278-9. J Chromatogr. 1990. PMID: 2211906

10

Hyperargininaemia.

Antonozzi I, Leuzzi V. Antonozzi I, et al. J Inherit Metab Dis. 1987;10(2):200. doi: 10.1007/BF01800051. J Inherit Metab Dis. 1987. PMID: 3116342 No abstract available.

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