Joanna Jen
Affiliations: | Department of Neurology | Icahn School of Medicine at Mount Sinai, New York, NY, United States |
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Publications
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| Graves TD, Griggs RC, Bundy BN, et al. (2022) Correction to: Episodic Ataxia Type 1: Natural History and Effect on Quality of Life. Cerebellum (London, England) |
| Graves TD, Griggs RC, Bundy BN, et al. (2022) Episodic Ataxia Type 1: Natural History and Effect on Quality of Life. Cerebellum (London, England) |
| Macaron G, Khoury J, Hajj-Ali RA, et al. (2021) Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease. Multiple Sclerosis and Related Disorders. 52: 103015 |
| Jen JC, Wan J. (2018) Episodic ataxias. Handbook of Clinical Neurology. 155: 205-215 |
| Jen JC, Wan J. (2018) Episodic ataxias. Handbook of Clinical Neurology. 148: 521-529 |
| Gillespie A, Gabunilas J, Jen JC, et al. (2017) Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae. Rna (New York, N.Y.) |
| Choi KD, Jen JC, Choi SY, et al. (2016) Late-onset episodic ataxia associated with SLC1A3 mutation. Journal of Human Genetics |
| Stam AH, Kothari PH, Shaikh A, et al. (2016) Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain : a Journal of Neurology |
| Legati A, Giovannini D, Nicolas G, et al. (2015) Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature Genetics. 47: 579-81 |
| Kolar GR, Kothari PH, Khanlou N, et al. (2014) Neuropathology and genetics of cerebroretinal vasculopathies. Brain Pathology (Zurich, Switzerland). 24: 510-8 |