| The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy P Bomont, L Cavalier, F Blondeau, CB Hamida, S Belal, M Tazir, E Demir, ... Nature genetics 26 (3), 370-374, 2000 | 428 | 2000 |
| Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy E Demir, P Sabatelli, V Allamand, A Ferreiro, B Moghadaszadeh, ... The American Journal of Human Genetics 70 (6), 1446-1458, 2002 | 200 | 2002 |
| Weight gain associated with valproate in childhood E Demir, S Aysun Pediatric neurology 22 (5), 361-364, 2000 | 135 | 2000 |
| Effect of antiepileptic drugs on plasma lipids, lipoprotein (a), and liver enzymes F Mujgan Sonmez, E Demir, A Orem, S Yildirmis, F Orhan, A Aslan, ... Journal of child neurology 21 (1), 70-74, 2006 | 111 | 2006 |
| Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome G Uyanik, N Elcioglu, J Penzien, C Gross, Y Yilmaz, A Olmez, E Demir, ... Neurology 66 (7), 1044-1048, 2006 | 81 | 2006 |
| Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations S Grossi, S Regis, R Biancheri, M Mort, S Lualdi, E Bertini, G Uziel, ... Orphanet journal of rare diseases 6, 1-13, 2011 | 58 | 2011 |
| Giant axonal neuropathy: clinical and genetic study in six cases E Demir, P Bomont, S Erdem, L Cavalier, M Demirci, G Kose, S Muftuoglu, ... Journal of Neurology, Neurosurgery & Psychiatry 76 (6), 825-832, 2005 | 58 | 2005 |
| Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia I Marin-Valencia, A Gerondopoulos, MS Zaki, T Ben-Omran, M Almureikhi, ... The American Journal of Human Genetics 101 (3), 441-450, 2017 | 48 | 2017 |
| Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci E Demir, A Ferreiro, P Sabatelli, V Allamand, S Makri, B Echenne, ... Neuropediatrics 35 (02), 103-112, 2004 | 46 | 2004 |
| Regional brain volume reduction and cognitive outcomes in preterm children at low risk at 9 years of age E Arhan, K Gücüyener, Ş Soysal, Ş Şalvarlı, MA Gürses, A Serdaroğlu, ... Child's Nervous System 33, 1317-1326, 2017 | 44 | 2017 |
| A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families P Dinçer, Z Akçören, E Demir, I Richard, Ö Sancak, G Kale, S Özme, ... Journal of medical genetics 37 (5), 361-367, 2000 | 42 | 2000 |
| Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia C Klein, K Hedrich, K Kabakci, K Mohrmann, K Wiegers, O Landt, ... Neurology 59 (11), 1783-1786, 2002 | 37 | 2002 |
| Infantile spasms as the initial symptom of biotinidase deficiency Ö Kalayci, T Coskun, A Tokatli, E Demir, G Erdem, C Güngör, A Yükselen, ... The Journal of pediatrics 124 (1), 103-104, 1994 | 31 | 1994 |
| Giant axonal neuropathy locus refinement to a< 590 kb critical interval L Cavalier, C BenHamida, R Amouri, S Belal, P Bomont, N Lagarde, ... European Journal of Human Genetics 8 (7), 527-534, 2000 | 28 | 2000 |
| Effect of alendronate treatment on the clinical picture and bone turnover markers in chronic idiopathic hyperphosphatasia E Demir, A Bereket, B Özkan, M Topçu Journal of Pediatric Endocrinology and Metabolism 13 (2), 217-222, 2000 | 28 | 2000 |
| Reduced retinal nerve fiber layer thickness and macular volume in pediatric multiple sclerosis Ü Yılmaz, K Gücüyener, DM Erin, Z Yazar, E Gürkaş, A Serdaroǧlu, ... Journal of Child Neurology 27 (12), 1517-1523, 2012 | 27 | 2012 |
| The effect of topiramate on body weight and ghrelin, leptin, and neuropeptide-Y levels of prepubertal children with epilepsy AA Ozcelik, A Serdaroglu, A Bideci, E Arhan, Ş Soysal, E Demir, ... Pediatric Neurology 51 (2), 220-224, 2014 | 26 | 2014 |
| Atypical presentations of SSPE: a clinical study in four cases E Demir, A Aksoy, B Anlar, FM Sönmez The Turkish Journal of Pediatrics 49 (3), 295-300, 2007 | 26 | 2007 |
| A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings I Tezcan, E Demir, E Aşan, G Kale, SF Müftüoǧlu, E Kotiloglu Clinical genetics 51 (2), 118-121, 1997 | 26 | 1997 |
| Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3 (VI) N10‐N7 domains S Squarzoni, P Sabatelli, N Bergamin, P Guicheney, E Demir, L Merlini, ... Journal of cellular physiology 206 (1), 160-166, 2006 | 22 | 2006 |
