Yeşim Parman
Istanbul University(TR)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Myasthenia Gravis and Thymoma, Peripheral Neuropathies and Disorders
Most-Cited Works
- → Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis(2018)2,831 cited
- → Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A(2004)1,546 cited
- → Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis(2016)620 cited
- → A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases(2014)391 cited
- → Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy(2015)244 cited
- → Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe(2016)235 cited
- → Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy(2003)210 cited
- → Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy(2023)176 cited
- → Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial(2021)176 cited
- → Transcriptional regulator PRDM12 is essential for human pain perception(2015)171 cited