Leuzzi V - Search Results

1

Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.

Longo C, Montioli R, Bisello G, Palazzi L, Mastrangelo M, Brennenstuhl H, de Laureto PP, Opladen T, Leuzzi V, Bertoldi M. Longo C, et al. Among authors: leuzzi v. Mol Genet Metab. 2021 Sep-Oct;134(1-2):147-155. doi: 10.1016/j.ymgme.2021.08.011. Epub 2021 Aug 28. Mol Genet Metab. 2021. PMID: 34479793

2

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: leuzzi v. Mol Genet Metab. 2000 Dec;71(4):633-8. doi: 10.1006/mgme.2000.3108. Mol Genet Metab. 2000. PMID: 11136556

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. 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

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies.

Mastrangelo M, Celato A, Leuzzi V. Mastrangelo M, et al. Among authors: leuzzi v. Eur J Paediatr Neurol. 2012 Mar;16(2):179-91. doi: 10.1016/j.ejpn.2011.07.015. Epub 2011 Sep 21. Eur J Paediatr Neurol. 2012. PMID: 21940184 Review.

5

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

Mastrangelo M, Leuzzi V. Mastrangelo M, et al. Among authors: leuzzi v. Pediatr Neurol. 2012 Jan;46(1):24-31. doi: 10.1016/j.pediatrneurol.2011.11.003. Pediatr Neurol. 2012. PMID: 22196487 Review.

6

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Libernini L, Lupis C, Mastrangelo M, Carrozzo R, Santorelli FM, Inghilleri M, Leuzzi V. Libernini L, et al. Among authors: leuzzi v. Neuropediatrics. 2012 Aug;43(4):201-8. doi: 10.1055/s-0032-1315431. Epub 2012 May 22. Neuropediatrics. 2012. PMID: 22618301

7

Inborn errors of creatine metabolism and epilepsy.

Leuzzi V, Mastrangelo M, Battini R, Cioni G. Leuzzi V, et al. Epilepsia. 2013 Feb;54(2):217-27. doi: 10.1111/epi.12020. Epub 2012 Nov 13. Epilepsia. 2013. PMID: 23157605 Free article. Review.

8

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency.

Mastrangelo M, Caputi C, Galosi S, Giannini MT, Leuzzi V. Mastrangelo M, et al. Among authors: leuzzi v. Mov Disord. 2013 Apr;28(4):556-7. doi: 10.1002/mds.25303. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23390030 No abstract available.

9

Teaching video neuroimages: clinical course of infantile ascending hereditary spastic paralysis.

Mastrangelo M, Bernasconi P, De Liso P, Caputi C, Bertino S, Leuzzi V. Mastrangelo M, et al. Among authors: leuzzi v. Neurology. 2014 Feb 18;82(7):e61. doi: 10.1212/WNL.0000000000000117. Neurology. 2014. PMID: 24536068 No abstract available.

10

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Leuzzi V, Mastrangelo M, Polizzi A, Artiola C, van Kuilenburg AB, Carducci C, Ruggieri M, Barone R, Tavazzi B, Abeling NG, Zoetekouw L, Sofia V, Zappia M, Carducci C. Leuzzi V, et al. JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1. JIMD Rep. 2015. PMID: 24788355 Free PMC article.

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