Stephan Zuchner
Affiliations: | Neuroscience (Medicine) | University of Miami, Coral Gables, FL |
Area:
Neuroscience Biology, Genetics, Medicine and SurgeryGoogle:
"Stephan Zuchner"Mean distance: 35622
Children
Sign in to add trainee| Donald S. McCorquodale | grad student | 2011 | University of Miami |
| Uzoezi Ozomaro | grad student | 2011 | University of Miami |
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Publications
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| Jacobs EH, Schatzman Raposo J, Scardamaglia A, et al. (2024) Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene. Stem Cell Research. 81: 103599 |
| Medina J, Rebelo A, Danzi MC, et al. (2024) Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease. Brain : a Journal of Neurology |
| Armirola-Ricaurte C, Morant L, Adant I, et al. (2024) Biallelic variants in cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. Medrxiv : the Preprint Server For Health Sciences |
| Beijer D, Dohrn MF, Rebelo A, et al. (2024) A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain : a Journal of Neurology |
| Li L, Menezes MP, Smith M, et al. (2024) Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature. Neuromuscular Disorders : Nmd. 37: 29-35 |
| Beijer D, Marte S, Li JC, et al. (2024) Dominant mutations causing axonal Charcot-Marie-Tooth disease expand -associated diseases. Brain Communications. 6: fcae070 |
| Pellerin D, Danzi MC, Renaud M, et al. (2024) Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clinical and Translational Medicine. 14: e1504 |
| Yalcouyé A, Rebelo AP, Cissé L, et al. (2023) Novel variant in causes Charcot-Marie-Tooth disease. Brain Communications. 5: fcad227 |
| Kulsirichawaroj P, Suksangkharn Y, Nam DE, et al. (2023) Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand. Journal of Neuromuscular Diseases |
| Lischka A, Eggermann K, Record CJ, et al. (2023) Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain : a Journal of Neurology |