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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: panagiotakaki e. 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.
Wilson disease in children: analysis of 57 cases.
Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, Kanavakis E, Syriopoulou VP. Manolaki N, et al. Among authors: panagiotakaki e. J Pediatr Gastroenterol Nutr. 2009 Jan;48(1):72-7. doi: 10.1097/MPG.0b013e31817d80b8. J Pediatr Gastroenterol Nutr. 2009. PMID: 19172127
Intelligence quotient improves after antiepileptic drug withdrawal following pediatric epilepsy surgery.
Boshuisen K, van Schooneveld MM, Uiterwaal CS, Cross JH, Harrison S, Polster T, Daehn M, Djimjadi S, Yalnizoglu D, Turanli G, Sassen R, Hoppe C, Kuczaty S, Barba C, Kahane P, Schubert-Bast S, Reuner G, Bast T, Strobl K, Mayer H, de Saint-Martin A, Seegmuller C, Laurent A, Arzimanoglou A, Braun KP; TimeToStop cognitive outcome study group. Boshuisen K, et al. Ann Neurol. 2015 Jul;78(1):104-14. doi: 10.1002/ana.24427. Ann Neurol. 2015. PMID: 25899932
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Panagiotakaki E, Doummar D, Nogue E, Nagot N, Lesca G, Riant F, Nicole S, Delaygue C, Barthez MA, Nassogne MC, Dusser A, Vallée L, Billette T, Bourgeois M, Ioos C, Gitiaux C, Laroche C, Milh M, Portes VD, Arzimanoglou A, Roubertie A; AHC–Movement Disorder Study Group. Panagiotakaki E, et al. Neurology. 2020 Mar 31;94(13):e1378-e1385. doi: 10.1212/WNL.0000000000009175. Epub 2020 Mar 2. Neurology. 2020. PMID: 32123049
53 results