Stephan Züchner
University of Miami(US)Dr. John T. Macdonald Foundation(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Mitochondrial Function and Pathology, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A(2004)1,546 cited
- → The Human Phenotype Ontology in 2017(2016)796 cited
- → dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway(2012)711 cited
- → TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics(2017)642 cited
- → Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia(2019)571 cited
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → Genome‐Wide Association Study Confirms SNPs in SNCA and the Region as Common Risk Factors for Parkinson Disease