Şeyma Tekgül
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Hereditary Neurological Disorders, Neurological disorders and treatments
Most-Cited Works
- → Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”(2023)24 cited
- → The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice(2021)16 cited
- → Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder(2022)6 cited
- → Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review(2024)5 cited
- → Cellular congenital mesoblastic nephroma with contralateral medullary nephrocalcinosis(2004)3 cited
- → Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike?(2020)3 cited
- → The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non‐kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient(2024)2 cited
- → Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood(2020)2 cited
- → Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing(2024)1 cited
- → Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family(2020)