Robin Palvadeau
Publications by Year
Research Areas
Nutrition, Genetics, and Disease, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Amyotrophic Lateral Sclerosis Research, Hereditary Neurological Disorders
Most-Cited Works
- → The genetic structure of the Turkish population reveals high levels of variation and admixture(2021)85 cited
- → Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis(2021)78 cited
- → Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking(2021)50 cited
- → Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family(2019)31 cited
- → De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia(2022)25 cited
- → Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database(2020)18 cited
- → The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice(2021)16 cited
- → Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells – A PROSPAX study(2024)2 cited
- → Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing(2024)1 cited
- → The genetic structure of the Turkish population(2021)1 cited