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 · 413 citations

Life Sciences, Genetics, Neuroscience +12

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 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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

Life Sciences, Genetics, Neurology +17

Giant axonal neuropathy: clinical and genetic study in six cases

Ercan Demir · Journal of Neurology Neurosurgery & Psychiatry · 2005 · 57 citations · Full text

Life Sciences, Genetics, Neurology +17

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Serena Grossi, Stefano Regis, Roberta Biancheri et al. · Orphanet Journal of Rare Diseases · 2011 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16