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Results: 11

1.

Distinct neurological disorders with ATP1A3 mutations.

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group.

Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Review.

PMID:
24739246
[PubMed - indexed for MEDLINE]
2.

White matter development in children with benign childhood epilepsy with centro-temporal spikes.

Ciumas C, Saignavongs M, Ilski F, Herbillon V, Laurent A, Lothe A, Heckemann RA, de Bellescize J, Panagiotakaki E, Hannoun S, Marinier DS, Montavont A, Ostrowsky-Coste K, Bedoin N, Ryvlin P.

Brain. 2014 Apr;137(Pt 4):1095-106. doi: 10.1093/brain/awu039. Epub 2014 Mar 4.

PMID:
24598359
[PubMed - indexed for MEDLINE]
3.

No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.

Bizec CL, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S.

JIMD Rep. 2014;12:115-20. doi: 10.1007/8904_2013_253. Epub 2013 Sep 4.

PMID:
24002817
[PubMed]
Free PMC Article
4.

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.

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

PMID:
22842232
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Timing of antiepileptic drug withdrawal and long-term seizure outcome after paediatric epilepsy surgery (TimeToStop): a retrospective observational study.

Boshuisen K, Arzimanoglou A, Cross JH, Uiterwaal CS, Polster T, van Nieuwenhuizen O, Braun KP; TimeToStop study group.

Lancet Neurol. 2012 Sep;11(9):784-91. Epub 2012 Jul 27.

PMID:
22841352
[PubMed - indexed for MEDLINE]
6.

Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.

Fons C, Campistol J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevšímalová S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch R, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium.

Eur J Paediatr Neurol. 2012 Jan;16(1):10-4. doi: 10.1016/j.ejpn.2011.08.006. Epub 2011 Sep 25.

PMID:
21945173
[PubMed - indexed for MEDLINE]
7.

Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).

Vuillaumier-Barrot S, Panagiotakaki E, Le Bizec C, El Baba C; ENRAHs for SME Consortium, Fontaine B, Arzimanoglou A, Seta N, Nicole S.

Neuropediatrics. 2010 Dec;41(6):267-9. doi: 10.1055/s-0031-1271767. Epub 2011 Mar 28.

PMID:
21445818
[PubMed - indexed for MEDLINE]
8.

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.

Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium, Arzimanoglou A.

Brain. 2010 Dec;133(Pt 12):3598-610. doi: 10.1093/brain/awq295. Epub 2010 Oct 24.

PMID:
20974617
[PubMed - indexed for MEDLINE]
Free Article
9.

Wilson disease in children: analysis of 57 cases.

Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, Kanavakis E, Syriopoulou VP.

J Pediatr Gastroenterol Nutr. 2009 Jan;48(1):72-7. doi: 10.1097/MPG.0b013e31817d80b8.

PMID:
19172127
[PubMed - indexed for MEDLINE]
10.

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, Papatheodorou A, Manesis E, Nousia-Arvanitakis S, Syriopoulou V, Kanavakis E.

Am J Med Genet A. 2004 Dec 1;131(2):168-73.

PMID:
15523622
[PubMed - indexed for MEDLINE]
11.

Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

Loudianos G, Lovicu M, Solinas P, Kanavakis E, Tzetis M, Manolaki N, Panagiotakaki E, Karpathios T, Cao A.

Genet Test. 2000;4(4):399-402.

PMID:
11216666
[PubMed - indexed for MEDLINE]

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