
Stephan Zuchner MD
Professor and Chair, Department of Human Genetics
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Miller School of Medicine at the University of Miami1501 NW 10th Avenue, BRB 616Miami, FL 33136
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Education & Training
- OtherClass of 1998
Publications & Presentations
PubMed
- 2 citationsMutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.Silvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, Edward Zhao, Veith Vollmer
European Journal of Neurology. 2023-02-01 - 5 citationsPeripheral neuropathy in mitochondrial disease.Rita Horvath, Jessica Medina, Mary M Reilly, Michael E Shy, Stephan Zuchner
Handbook of Clinical Neurology. 2023-01-01 - 1 citationsConduction block and temporal dispersion in a SIGMAR1-related neuropathy.Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Stephan Zuchner, Mary M Reilly
Journal of the Peripheral Nervous System. 2022-12-01
Press Mentions
- Researchers Identify Potential Modifier Genes in Patients with Charcot-Marie-Tooth DiseaseJune 18th, 2019
- An Unusual Mutation Type Explains the Nature of Late-Life Balance ProblemsApril 12th, 2019
- Observational Trial Recruiting Participants to Identify New CMT-Related MutationsMarch 12th, 2019
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Grant Support
- Exploring Minorities: the Undiagnosed Diseases Network Clinical Site of MiamiUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2018–2028
- Exploring Minorities: the Undiagnosed Diseases Network Clinical Site of MiamiUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2018–2028
- Exploring Minorities: the Undiagnosed Diseases Network Clinical Site of MiamiUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2018–2028
- Exploring Minorities: the Undiagnosed Diseases Network Clinical Site of MiamiUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2018–2028
- Exploring Minorities: the Undiagnosed Diseases Network Clinical Site of MiamiUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2018–2028
- Exploring Minorities: the Undiagnosed Diseases Network Clinical Site of MiamiUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2018–2028
- Genome Studies in Hereditary Spastic Paraplegia- Beyond the ExomeUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2011–2027
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Southeast Enrollment Center Consortium 2 (SEEC-2)UNIVERSITY OF MIAMI SCHOOL OF MEDICINE2024–2025
- Creating an advanced multi-ancestral resource and tools for short tandem repeat analysis in the AOURP researcher workbenchUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2023–2025
- Comprehensive gene and DNA variant curation for neuromuscular diseasesUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2021–2025
- Comprehensive gene and DNA variant curation for neuromuscular diseasesUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2021–2025
- Comprehensive gene and DNA variant curation for neuromuscular diseasesUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2021–2025
- Comprehensive gene and DNA variant curation for neuromuscular diseasesUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2021–2025
- Genomic Studies in Charcot-Marie-Tooth DiseaseUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2019–2025
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