Hasan O. Akman

Mitochondrial abnormalities in temporal lobe of autistic brain

Guomei Tang, Puri Gutierrez Rios, Sheng‐Han Kuo et al. · Neurobiology of Disease · 2013 · 195 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis

Molly E. McCue, Stephanie J. Valberg, Michael B. Miller et al. · Genomics · 2008 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Mariko Taniguchi‐Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa et al. · Nature · 2011 · 186 citations

Medicine, Genetics, Molecular Genetics +10

Coenzyme Q deficiency and cerebellar ataxia associated with an <i>aprataxin</i> mutation

Catarina M. Quinzii, Andrea G. Kattah, Ali Naini et al. · Neurology · 2005 · 171 citations

Life Sciences, Genetics, Molecular Genetics +14

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

Fanny Mochel, Raphael Schiffmann, Marjan E. Steenweg et al. · Annals of Neurology · 2012 · 154 citations

Medicine, Neurology, Neuroscience +14