Sema Kalkan Uçar

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik et al. · Nature Genetics · 2012 · 205 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mitochondrial Function +7

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

Christian J. Hendriksz, Christine Lavery, Mahmut Çöker et al. · Orphanet Journal of Rare Diseases · 2014 · 92 citations · Full text

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Julia Schreml, Burak Durmaz, Özgür Çoğulu et al. · Human Genetics · 2013 · 77 citations

Developmental Biology, Mendelian Disorder, “ Link ” +8

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 72 citations · Full text

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian et al. · Genetics in Medicine · 2022 · 61 citations · Full text