Hasan O. Akman
Columbia University Irving Medical Center(US)
Publications by Year
Research Areas
Glycogen Storage Diseases and Myoclonus, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research
Most-Cited Works
- → Mitochondrial abnormalities in temporal lobe of autistic brain(2013)191 cited
- → Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis(2008)188 cited
- → Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy(2011)185 cited
- → Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation(2005)171 cited
- → Cellular response to hypoxia involves signaling via Smad proteins(2003)153 cited
- → Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings(2012)152 cited
- → Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1