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Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A.
Mastrapasqua M, Rossi R, De Cosmo L, Resta A, Errede M, Bizzoca A, Zampatti S, Resta N, Giardina E, Ruggieri M, Virgintino D, Annese T, Laforgia N, Girolamo F. Mastrapasqua M, et al. Among authors: de cosmo l. Eur J Transl Myol. 2023 Jul 28;33(3):11501. doi: 10.4081/ejtm.2023.11501. Eur J Transl Myol. 2023. PMID: 37522802 Free PMC article.
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Carapancea E, et al. Among authors: de cosmo l. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Among authors: de cosmo l. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations.
Laforgia N, Di Mauro A, Favia Guarnieri G, Varvara D, De Cosmo L, Panza R, Capozza M, Baldassarre ME, Resta N. Laforgia N, et al. Among authors: de cosmo l. Oxid Med Cell Longev. 2018 Dec 30;2018:7404082. doi: 10.1155/2018/7404082. eCollection 2018. Oxid Med Cell Longev. 2018. PMID: 30693064 Free PMC article. Review.
A Rare Case of Severe Congenital RYR1-Associated Myopathy.
Laforgia N, Capozza M, De Cosmo L, Di Mauro A, Baldassarre ME, Mercadante F, Torella AL, Nigro V, Resta N. Laforgia N, et al. Among authors: de cosmo l. Case Rep Genet. 2018 Aug 1;2018:6184185. doi: 10.1155/2018/6184185. eCollection 2018. Case Rep Genet. 2018. PMID: 30155320 Free PMC article.
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly.
Resta N, De Cosmo L, Susca FC, Capodiferro D, Nardone AM, Pastorivo D, Bertoli M, Serlenga C, Burattini M, Schettini F, Laforgia N. Resta N, et al. Among authors: de cosmo l. Am J Med Genet A. 2013 Mar;161A(3):632-6. doi: 10.1002/ajmg.a.35777. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401394 No abstract available.
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