Ercan Demir

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, L Cavalier, F Blondeau et al. · Nature Genetics · 2000 · 410 citations

Neuroregeneration, Molecular Neuroscience, Giant Axonal Neuropathy +11

Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

Ercan Demir, Patrizia Sabatelli, Valérie Allamand et al. · The American Journal of Human Genetics · 2002 · 167 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +9

Novel truncating and missense mutations of the <i>KCC3</i> gene associated with Andermann syndrome

G. Uyanık, Nursel Elçioğlu, Johannes Penzien et al. · Neurology · 2006 · 66 citations · Full text

Giant axonal neuropathy: clinical and genetic study in six cases

Ercan Demir · Journal of Neurology Neurosurgery & Psychiatry · 2005 · 56 citations · Full text

Regional brain volume reduction and cognitive outcomes in preterm children at low risk at 9 years of age

Ebru Arhan, Kıvılcım Gücüyener, Şebnem Soysal et al. · Child s Nervous System · 2017 · 42 citations

Developmental Cognitive Neuroscience, Preschool Development, Social Sciences +16