Publications by authors named "Joanna C Jen"

58Publications

Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.

Neurology 2020 10 4;95(14):e1918-e1931. Epub 2020 Sep 4.

From the Department of Neurology (A.L.F., V.W.C., S.F., M.B.M., A.M.B., V.B., Y.T., P.K., Y.C., J.H., J.-M.L.), Mallinckrodt Institute of Radiology (A.L.F., J.-M.L., H.A.), Department of Ophthalmology (M.G.G.), and Department of Medicine (M.B., M.K.L., D.H., J.J.M., J.P.A.), Division of Rheumatology, Washington University School of Medicine, St. Louis, MO; Department of Radiology (D.L.), The Johns Hopkins University School of Medicine, Baltimore, MD; and Department of Neurology (J.C.J.), Icahn School of Medicine at Mount Sinai, New York, NY.

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October 2020

CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion.

Brain 2020 02;143(2):386-390

Division of Neuro-otology & Neurogenetics, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, USA.

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February 2020

A novel mutation causes intellectual disability with autistic and aggressive behaviors.

Neurol Genet 2019 Oct 4;5(5):e356. Epub 2019 Sep 4.

Cancer Research Center (H.D.), Semnan University of Medical Sciences; Department of Medical Genetics (H.D., E.A., F.J.), School of Medicine, Semnan University of Medical Sciences, Iran; Department of Neurosciences (L.J.A.) and Department of Neurology (L.J.A., J.C.J., C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York; Iranian Center of Neurological Research (A.T.), Neuroscience Institute, Tehran University of Medical Sciences, Iran; Department of Otolaryngology (J.C.J.), Department of Neurosurgery (J.C.J.), Department of Psychiatry (C.P.-R.), Department of Genetics and Genomic Sciences (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; Mindich Child Health and Development Institute (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; and Friedman Brain Institute (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York.

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October 2019

TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.

Brain Pathol 2018 11 10;28(6):806-821. Epub 2018 Oct 10.

Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, MO.

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November 2018

Episodic ataxias.

Handb Clin Neurol 2018 ;155:205-215

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, United States.

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October 2018

Episodic ataxias.

Handb Clin Neurol 2018 ;148:521-529

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States.

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August 2018

Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society.

J Vestib Res 2017 ;27(4):177-189

Department of Otolaryngology, Maastricht, The Netherlands/Department of Medical Physics, Tomsk Research State University, Russian Federation.

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June 2018

Impaired K binding to glial glutamate transporter EAAT1 in migraine.

Sci Rep 2017 10 24;7(1):13913. Epub 2017 Oct 24.

Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research (HIH), Tübingen, Germany.

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October 2017

SUPERFICIAL AND DEEP CAPILLARY ISCHEMIA AS A PRESENTING SIGN OF RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS.

Retin Cases Brief Rep 2018 Fall;12 Suppl 1:S87-S91

Retina Division, Stein Eye Institute, University of California Los Angeles, Los Angeles, California.

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October 2018

Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria.

Mol Biol Cell 2017 Mar 5;28(5):600-612. Epub 2017 Jan 5.

Department of Chemistry and Biochemistry, University of California, Los Angeles, Los Angeles, CA 90095

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March 2017

Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in .

RNA 2017 04 4;23(4):466-472. Epub 2017 Jan 4.

Department of Chemistry and Biochemistry and the Molecular Biology Institute, University of California, Los Angeles, California 90095-1569, USA.

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April 2017

Late-onset episodic ataxia associated with SLC1A3 mutation.

J Hum Genet 2017 Mar 10;62(3):443-446. Epub 2016 Nov 10.

Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.

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March 2017

Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.

Nat Rev Neurol 2016 Apr 4;12(4):195-203. Epub 2016 Mar 4.

Departments of Neurology, Neuroscience and Biomedical Engineering, College of Medicine, University of Florida, 100 Newell Road, Gainesville, Florida 32610, USA.

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April 2016

Vestibular paroxysmia: Diagnostic criteria.

J Vestib Res 2016 ;26(5-6):409-415

Department of Neurology and German Center for Vertigo and Balance Disorders, University Hospital Munich, University of Munich, Germany.

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February 2018

Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy.

Neurology 2015 Nov;85(18):1633-4

From the University of Virginia (R.D., D.S., M.B.S.L., B.B.W.), Charlottesville; the UCLA School of Medicine (J.C.J.), Los Angeles, CA; and the Johns Hopkins University School of Medicine (D.D.L.), Baltimore, MD.

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November 2015

Two cases of rheumatoid meningitis.

Neuropathology 2016 Feb 8;36(1):93-102. Epub 2015 Sep 8.

Section of Neuropathology, Department of Pathology and Laboratory Medicine.

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February 2016