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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| 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 |
| Wang M, Yang H, Lin Z, et al. (2023) The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies. Journal of Neurology |
| Horvath R, Medina J, Reilly MM, et al. (2023) Peripheral neuropathy in mitochondrial disease. Handbook of Clinical Neurology. 194: 99-116 |
| Cipriani S, Guerrero-Valero M, Tozza S, et al. (2022) Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy. European Journal of Neurology |
| Van de Vondel L, De Winter J, Beijer D, et al. (2022) De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement Disorders : Official Journal of the Movement Disorder Society |
| Beijer D, Polavarapu K, Preethish-Kumar V, et al. (2022) Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report. Journal of Neuromuscular Diseases. 9: 347-351 |
| Kozol RA, James DM, Varela I, et al. (2021) Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits. Communications Biology. 4: 1411 |