2022
Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience
KAYMAKCALAN H, YALCINKAYA L, NIKEREL E, YALCIN Y, DONG W, Sencıcek A. Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience. Marmara Medical Journal 2022, 35: 159-163. DOI: 10.5472/marumj.1120570.Peer-Reviewed Original Research
2014
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal Of Medical Genetics 2014, 58: 39-43. PMID: 25220016, PMCID: PMC4804755, DOI: 10.1016/j.ejmg.2014.08.008.Peer-Reviewed Original ResearchConceptsN-glycanase 1Proteasome-mediated degradationConserved enzymeFrame-shift mutationApparent intellectual disabilityBase pair deletionNeuromotor impairmentNovel homozygous frame-shift mutationHomozygous frame-shift mutationNeuronal cellsPair deletionAmyotrophic lateral sclerosisIntellectual disabilityMutationsProteinNeurological functionCorneal opacityNeurologic diseaseLateral sclerosisParkinson's diseaseProgressive lossDiseaseCytoplasmImpairmentDeletion