Yeşim Parman

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

David Adams, Alejandra González‐Duarte, William O’Riordan et al. · New England Journal of Medicine · 2018 · 2.8K citations · Full text

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.5K citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mitochondrial Function +9

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Shinya Yamamoto, Manish Jaiswal, Wu‐Lin Charng et al. · Cell · 2014 · 386 citations · Full text

Drosophila Genetic Resource, Genetic Diseases, Genetics +9

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 240 citations · Full text

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel et al. · The American Journal of Human Genetics · 2003 · 210 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +9