Ercan Demir
Publications by Year
Research Areas
Epilepsy research and treatment, Metabolism and Genetic Disorders, Neonatal and fetal brain pathology, Skin and Cellular Biology Research, Hereditary Neurological Disorders
Most-Cited Works
- → The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy(2000)412 cited
- → Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy(2002)167 cited
- → Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome(2006)66 cited
- → Giant axonal neuropathy: clinical and genetic study in six cases(2005)57 cited
- → Regional brain volume reduction and cognitive outcomes in preterm children at low risk at 9 years of age(2017)42 cited
- → Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations(2011)41 cited
- → Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to theCOL6Loci(2004)37 cited
- → Reduced Retinal Nerve Fiber Layer Thickness and Macular Volume in Pediatric Multiple Sclerosis(2012)23 cited
- → Infantile spasms as the initial symptom of biotinidase deficiency(1994)23 cited
- → Giant axonal neuropathy locus refinement to a < 590 kb critical interval(2000)22 cited