Gülşah Şimşir
Koç University(TR)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, DNA Repair Mechanisms, Supramolecular Chemistry and Complexes
Most-Cited Works
- → Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family(2019)31 cited
- → The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice(2021)16 cited
- → A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia(2020)15 cited
- → VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population(2022)9 cited
- → Varied phenotypic spectrum presenting of paroxysmal exercise–induced dyskinesia: a Turkish family with SLC2A1 mutation(2021)2 cited
- → Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene(2022)1 cited
- → Ocular findings of oculomotor apraxia/ataxia type 1(2022)1 cited
- → Two homozygous KIF1C variants in a Turkish family presenting with cerebellar dysfunction and spastic paraparesis with MRI findings(2025)
- → Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6‐2(2022)