A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia
Ahmed Serkan Emekli, Bedia Samancı, Gülşah Şimşir, Haşmet Hanağası, Hakan Gürvıt, Başar Bılgıç, A. Nazlı Başak
Topics & Concepts
AtaxiaHypogonadotropic hypogonadismMedicineNeurologyMutationCerebellar ataxiaGeneticsPediatricsBiologyInternal medicineGenePsychiatryHormoneGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyUbiquitin and proteasome pathways