Mastrangelo M - Search Results

1

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood.

Mastrangelo M, Manti F, Giannini MT, Guerrini R, Leuzzi V. Mastrangelo M, et al. Neurol Genet. 2020 Sep 8;6(5):e510. doi: 10.1212/NXG.0000000000000510. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33134511 Free PMC article. No abstract available.

2

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.

3

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.

4

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

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

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.

7

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.

8

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.

9

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

10

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

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