Memnune Yüksel Apak

Publications by Year

Research Areas

Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Hereditary Neurological Disorders, Neurological diseases and metabolism, Cystic Fibrosis Research Advances

Most-Cited Works

• → Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia(2001)359 cited
• → Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency(1999)282 cited
• → Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children(2000)78 cited
• → Further delineation of Frank–ter Haar syndrome(2004)48 cited
• → CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children(2009)46 cited
• → Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)(1998)43 cited
• → Unusual molecular findings in autosomal recessive spinal muscular atrophy.(1996)43 cited
• → An Insulin Receptor Mutant (Asp707→ Ala), Involved in Leprechaunism, Is Processed and Transported to the Cell Surface but Unable to Bind Insulin(1996)27 cited
• → Cystic Fibrosis Mutation and Associated Haplotypes in Turkish Cystic Fibrosis Patients(2001)23 cited
• → The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome(2006)19 cited