Projects per year
Personal profile
Headline
PROFESSOR - Neurology PROFESSOR - Otolaryngology PROFESSOR - Neurosurgery
Fingerprint
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.
- 1 Similar Profiles
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 7 Finished
-
PHASE 2 STUDY OF 4-AMINOPYRIDINE FOR THE TREATMENT OF EPISODIC ATAXIA TYPE 2
U.S. Food and Drug Administration
15/02/11 → 31/01/15
Project: Research
-
Genetics of Familial Episodic Ataxia
National Institute of Neurological Disorders and Stroke
20/09/09 → 31/08/10
Project: Research
-
Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
National Institute of Neurological Disorders and Stroke
15/09/09 → 31/08/10
Project: Research
-
International Conference on Episodic Ataxia Syndromes
National Institute of Neurological Disorders and Stroke
1/11/05 → 31/10/06
Project: Research
-
-
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
1 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 Access8 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 Access12 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