Beril Talim

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya et al. · Developmental Cell · 2001 · 707 citations · Full text

Mendelian Disorder, Neuronal Migration Disorder, Genetic Disorder +8

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 433 citations · Full text

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 361 citations · Full text

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 · 317 citations · Full text

Metabolic Disorder, Coenzyme Q10, Genetics +21

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

Yuji Hara, Burcu Balcı-Hayta, Takako Yoshida‐Moriguchi et al. · New England Journal of Medicine · 2011 · 276 citations · Full text

Glycobiology, Pathology, Cellular Physiology +21