Mastrangelo M - Search Results

1

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.

Cappuccio G, Torella A, Mastrangelo M, Carducci C, Nigro V; TUDP; Brunetti-Pierri N, Leuzzi V. Cappuccio G, et al. Among authors: mastrangelo m. Acta Paediatr. 2019 Mar;108(3):564-565. doi: 10.1111/apa.14633. Epub 2018 Nov 27. Acta Paediatr. 2019. PMID: 30383884 No abstract available.

2

Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.

Mastrangelo M, Mariani R, Spalice A, Ruggieri M, Iannetti P. Mastrangelo M, et al. Acta Paediatr. 2009 Apr;98(4):760-2. doi: 10.1111/j.1651-2227.2008.01183.x. Epub 2008 Jan 6. Acta Paediatr. 2009. PMID: 19141142

3

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

Mastrangelo M, Celato A, Leuzzi V. Mastrangelo M, et al. 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.

4

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

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

5

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: mastrangelo m. Neuropediatrics. 2012 Aug;43(4):201-8. doi: 10.1055/s-0032-1315431. Epub 2012 May 22. Neuropediatrics. 2012. PMID: 22618301

6

A new form of cerebral folate deficiency with severe self-injurious behaviour.

Leuzzi V, Mastrangelo M, Celato A, Carducci C, Carducci C. Leuzzi V, et al. Among authors: mastrangelo m. Acta Paediatr. 2012 Nov;101(11):e482-3. doi: 10.1111/j.1651-2227.2012.02800.x. Epub 2012 Sep 13. Acta Paediatr. 2012. PMID: 22861007 No abstract available.

7

Inborn errors of creatine metabolism and epilepsy.

Leuzzi V, Mastrangelo M, Battini R, Cioni G. Leuzzi V, et al. Among authors: mastrangelo m. 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. 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. 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. Among authors: mastrangelo m. 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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