Mastrangelo M - Search Results

1

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

2

Early-onset hereditary neuropathy with liability to pressure palsy.

Antonini G, Luchetti A, Mastrangelo M, Ciambra GL, Di Netta S, Taioli F, Fabrizi GM, Iannetti P. Antonini G, et al. Among authors: mastrangelo m. Neuropediatrics. 2007 Feb;38(1):50-4. doi: 10.1055/s-2007-981451. Neuropediatrics. 2007. PMID: 17607607 Review.

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

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.

6

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.

7

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.

8

The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study.

Mastrangelo M, Chiarotti F, Berillo L, Caputi C, Carducci C, Di Biasi C, Manti F, Nardecchia F, Leuzzi V. Mastrangelo M, et al. Mol Genet Metab. 2015 Nov;116(3):171-7. doi: 10.1016/j.ymgme.2015.08.005. Epub 2015 Aug 10. Mol Genet Metab. 2015. PMID: 26283467

9

Epilepsy in KCNH1-related syndromes.

Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V. Mastrangelo M, et al. Epileptic Disord. 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. Epileptic Disord. 2016. PMID: 27267311

10

Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B.

Leuzzi V, Mastrangelo M, Giannini MT, Carbonetti R, Hoffmann GF. Leuzzi V, et al. Among authors: mastrangelo m. Neurology. 2017 Jan 31;88(5):501-502. doi: 10.1212/WNL.0000000000003539. Epub 2016 Dec 30. Neurology. 2017. PMID: 28039315 No abstract available.

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