Research output per year
Research output per year
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PROFESSOR - Neurology PROFESSOR - Otolaryngology PROFESSOR - Neurosurgery
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Dive into the research topics where Joanna Jen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease
Macaron, G., Khoury, J., Hajj-Ali, R. A., Prayson, R. A., Srivastava, S., Ehlers, J. P., Mamsa, H., Liszewski, M. K., Jen, J. C., Bermel, R. A. & Ontaneda, D., Jul 2021, In: Multiple Sclerosis and Related Disorders. 52, 103015.Research output: Contribution to journal › Letter › peer-review
2 Scopus citations -
CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion
Paisán-Ruiz, C. & Jen, J. C., 1 Feb 2020, In: Brain. 143, 2, p. 386-390 5 p.Research output: Contribution to journal › Comment/debate
Open Access4 Scopus citations -
Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy
Ford, A. L., Chin, V. W., Fellah, S., Binkley, M. M., Bodin, A. M., Balasetti, V., Taiwo, Y., Kang, P., Lin, D., Jen, J. C., Grand, M. G., Bogacki, M., Liszewski, M. K., Hourcade, D., Chen, Y., Hassenstab, J., Lee, J. M., An, H., Miner, J. J. & Atkinson, J. P., 6 Oct 2020, In: Neurology. 95, 14, p. E1918-E1931Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors
Darvish, H., Azcona, L. J., Alehabib, E., Jamali, F., Tafakhori, A., Ranji-Burachaloo, S., Jen, J. C. & Paisán-Ruiz, C., 2019, In: Neurology: Genetics. 5, 5, e356.Research output: Contribution to journal › Review article › peer-review
Open Access15 Scopus citations -
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B)
François-Moutal, L., Jahanbakhsh, S., Nelson, A. D. L., Ray, D., Scott, D. D., Hennefarth, M. R., Moutal, A., Perez-Miller, S., Ambrose, A. J., Al-Shamari, A., Coursodon, P., Meechoovet, B., Reiman, R., Lyons, E., Beilstein, M., Chapman, E., Morris, Q. D., Van Keuren-Jensen, K., Hughes, T. R., Khanna, R., & 4 others, 19 Oct 2018, In: ACS Chemical Biology. 13, 10, p. 3000-3010 11 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations