Gülsev Kale

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Klaus Gempel, Haluk Topaloğlu, Beril Talim et al. · Brain · 2007 · 319 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

Gökhan Uyanık, Pervin Dinçer, Tobias Willer et al. · Neuromuscular Disorders · 2005 · 178 citations

Life Sciences, Genetics, Molecular Genetics +11

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

Satomi Mitsuhashi, Aya Ohkuma, Beril Talim et al. · The American Journal of Human Genetics · 2011 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Thirty-three-year experience on childhood poisoning.

Benan Bayrakçı, Özlem Tekşam, Bilgehan Yalçın et al. · PubMed · 2012 · 66 citations

Pharmacy, Pediatrics, Toxicology +8