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Startle epilepsy complicating aspartylglucosaminuria.
Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A. Labate A, et al. Among authors: zappia m. Brain Dev. 2004 Mar;26(2):130-3. doi: 10.1016/S0387-7604(03)00069-X. Brain Dev. 2004. PMID: 15036433
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: zappia 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.
CSF N-glycoproteomics for early diagnosis in Alzheimer's disease.
Palmigiano A, Barone R, Sturiale L, Sanfilippo C, Bua RO, Romeo DA, Messina A, Capuana ML, Maci T, Le Pira F, Zappia M, Garozzo D. Palmigiano A, et al. Among authors: zappia m. J Proteomics. 2016 Jan 10;131:29-37. doi: 10.1016/j.jprot.2015.10.006. Epub 2015 Oct 9. J Proteomics. 2016. PMID: 26455811
CSF N-Glycomics Using MALDI MS Techniques in Alzheimer's Disease.
Palmigiano A, Messina A, Bua RO, Barone R, Sturiale L, Zappia M, Garozzo D. Palmigiano A, et al. Among authors: zappia m. Methods Mol Biol. 2018;1750:75-91. doi: 10.1007/978-1-4939-7704-8_5. Methods Mol Biol. 2018. PMID: 29512066
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Mostile G, Barone R, Nicoletti A, Rizzo R, Martinelli D, Sturiale L, Fiumara A, Jankovic J, Zappia M. Mostile G, et al. Among authors: zappia m. Eur J Neurol. 2019 Sep;26(9):1226-1234. doi: 10.1111/ene.14007. Epub 2019 Jun 21. Eur J Neurol. 2019. PMID: 31132195
517 results