Panagiotakaki E - Search Results

1

Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.

Patel S, Maney K, Morris L, Papadopoulou MT, Prange L, Boggs A, Hunanyan A, Megvinov A, Vavassori R, Panagiotakaki E, Mikati MA. Patel S, et al. Among authors: panagiotakaki e. Eur J Paediatr Neurol. 2024 Mar;49:55-59. doi: 10.1016/j.ejpn.2024.02.004. Epub 2024 Feb 12. Eur J Paediatr Neurol. 2024. PMID: 38367370

2

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. Loudianos G, et al. Among authors: panagiotakaki e. Genet Test. 2000;4(4):399-402. doi: 10.1089/109065700750065162. Genet Test. 2000. PMID: 11216666

3

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

4

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.

Lepais L, Cheillan D, Frachon SC, Hays S, Matthijs G, Panagiotakaki E, Abel C, Edery P, Rossi M. Lepais L, et al. Among authors: panagiotakaki e. Am J Med Genet A. 2015 Nov;167A(11):2748-54. doi: 10.1002/ajmg.a.37232. Epub 2015 Jun 30. Am J Med Genet A. 2015. PMID: 26126960

5

Time to relapse after epilepsy surgery in children: AED withdrawal policies are a contributing factor.

Boshuisen K, Schmidt D, Uiterwaal CS, Arzimanoglou A, Braun KP, Study Group T; TimeToStop Study Group. Boshuisen K, et al. Epileptic Disord. 2014 Sep;16(3):305-11. doi: 10.1684/epd.2014.0681. Epileptic Disord. 2014. PMID: 25204012 Free article.

6

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.

Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.

7

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. Panagiotakaki E, et al. Am J Med Genet A. 2004 Dec 1;131(2):168-73. doi: 10.1002/ajmg.a.30345. Am J Med Genet A. 2004. PMID: 15523622

8

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. Bizec CL, et al. Among authors: panagiotakaki e. JIMD Rep. 2014;12:115-20. doi: 10.1007/8904_2013_253. Epub 2013 Sep 4. JIMD Rep. 2014. PMID: 24002817 Free PMC article.

9

[Clinical presentations, etiologies and prognosis of epilepsy in children].

Arzimanoglou A, Panagiotakaki E, Bouveyron S. Arzimanoglou A, et al. Among authors: panagiotakaki e. Soins Pediatr Pueric. 2015 Mar-Apr;(283):14-8. doi: 10.1016/j.spp.2015.01.002. Soins Pediatr Pueric. 2015. PMID: 26100478 French.

10

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. Panagiotakaki E, et al. Brain. 2010 Dec;133(Pt 12):3598-610. doi: 10.1093/brain/awq295. Epub 2010 Oct 24. Brain. 2010. PMID: 20974617

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