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COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D. Brea-Calvo G, et al. Among authors: laforgia n. Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023. Am J Hum Genet. 2015. PMID: 25658047 Free PMC article.
Timing of Symptoms of Early-Onset Sepsis after Intrapartum Antibiotic Prophylaxis: Can It Inform the Neonatal Management?
Berardi A, Trevisani V, Di Caprio A, Caccamo P, Latorre G, Loprieno S, Foglianese A, Laforgia N, Perrone B, Nicolini G, Ciccia M, Capretti MG, Giugno C, Rizzo V, Merazzi D, Fanaro S, Taurino L, Pulvirenti RM, Orlandini S, Auriti C, Haass C, Ligi L, Vellani G, Tzialla C, Tuoni C, Santori D, Baroni L, China M, Bua J, Visintini F, Decembrino L, Creti R, Miselli F, Bedetti L, Lugli L. Berardi A, et al. Among authors: laforgia n. Pathogens. 2023 Apr 13;12(4):588. doi: 10.3390/pathogens12040588. Pathogens. 2023. PMID: 37111474 Free PMC article.
Analysis of Antibiotic Exposure and Early-Onset Neonatal Sepsis in Europe, North America, and Australia.
Giannoni E, Dimopoulou V, Klingenberg C, Navér L, Nordberg V, Berardi A, El Helou S, Fusch G, Bliss JM, Lehnick D, Guerina N, Seliga-Siwecka J, Maton P, Lagae D, Mari J, Janota J, Agyeman PKA, Pfister R, Latorre G, Maffei G, Laforgia N, Mózes E, Størdal K, Strunk T, Stocker M; AENEAS Study Group. Giannoni E, et al. Among authors: laforgia n. JAMA Netw Open. 2022 Nov 1;5(11):e2243691. doi: 10.1001/jamanetworkopen.2022.43691. JAMA Netw Open. 2022. PMID: 36416819 Free PMC article.
EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
Fogarasi A, De Waele L, Bartalini G, Jozwiak S, Laforgia N, Verhelst H, Petrak B, Pedespan JM, Witt O, Castellana R, Crippa S, Gislimberti G, Gyorsok Z. Fogarasi A, et al. Among authors: laforgia n. BMC Neurol. 2016 Aug 8;16:126. doi: 10.1186/s12883-016-0658-4. BMC Neurol. 2016. PMID: 27502586 Free PMC article. Clinical Trial.
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. Case Rep Genet. 2018 Aug 1;2018:6184185. doi: 10.1155/2018/6184185. eCollection 2018. Case Rep Genet. 2018. PMID: 30155320 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. 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.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Among authors: laforgia n. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 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. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.
189 results