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Page 1
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Among authors: neri g. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
An additional patient with the 3C syndrome.
Gurrieri F, Neri G. Gurrieri F, et al. Among authors: neri g. Clin Genet. 1992 May;41(5):263-5. doi: 10.1111/j.1399-0004.1992.tb03678.x. Clin Genet. 1992. PMID: 1606716
A girl with the Lujan-Fryns syndrome.
Gurrieri F, Neri G. Gurrieri F, et al. Among authors: neri g. Am J Med Genet. 1991 Feb-Mar;38(2-3):290-1. doi: 10.1002/ajmg.1320380225. Am J Med Genet. 1991. PMID: 2018074 No abstract available.
Oral-facial-skeletal syndromes.
Neri G, Gurrieri F, Genuardi M. Neri G, et al. Am J Med Genet. 1995 Nov 20;59(3):365-8. doi: 10.1002/ajmg.1320590317. Am J Med Genet. 1995. PMID: 8599363 Review. No abstract available.
926 results