J
Joanna C. Jen
Researcher at University of California, Los Angeles
Publications - 64
Citations - 4535
Joanna C. Jen is an academic researcher from University of California, Los Angeles. The author has contributed to research in topics: Ataxia & Episodic ataxia. The author has an hindex of 35, co-authored 61 publications receiving 3976 citations. Previous affiliations of Joanna C. Jen include Icahn School of Medicine at Mount Sinai & Washington University in St. Louis.
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Journal ArticleDOI
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Anna Richards,Arn M. J. M. van den Maagdenberg,Joanna C. Jen,David J. Kavanagh,Paula Bertram,Dirk Spitzer,M. Kathryn Liszewski,Maria Louise Barilla-Labarca,Gisela M. Terwindt,Yumi Kasai,Michael D. McLellan,Mark Gilbert Grand,Kaate R J Vanmolkot,Boukje de Vries,Jijun Wan,Michael J. Kane,Hafsa Mamsa,Ruth Schäfer,Anine H. Stam,Joost Haan,Paulus T. V. M. de Jong,Paulus T. V. M. de Jong,Caroline W. Storimans,Mary J. van Schooneveld,J. A. Oosterhuis,Andreas Gschwendter,Martin Dichgans,Katya E. Kotschet,Suzanne Hodgkinson,Todd A. Hardy,Martin B. Delatycki,Rula A. Hajj-Ali,Parul H. Kothari,Stanley F. Nelson,Rune R. Frants,Robert W. Baloh,Michel D. Ferrari,John P. Atkinson +37 more
TL;DR: Heterozygous C-terminal frameshift mutations in TREX1 retain exonuclease activity but lose normal perinuclear localization, which has implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias.
Journal ArticleDOI
Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis
Joanna C. Jen,Wai-Man Chan,Thomas M. Bosley,Jijun Wan,Janai R. Carr,Udo Rüb,David W. Shattuck,G. Salamon,Lili C. Kudo,Jing Ou,Doris D. M. Lin,Mustafa A. Salih,Tulay Kansu,Hesham al Dhalaan,Zayed Al Zayed,David B. MacDonald,Bent Stigsby,Andreas Plaitakis,Emmanuel K. Dretakis,Irene Gottlob,Christina Pieh,Elias I. Traboulsi,Qing Kenneth Wang,Lejin Wang,Lejin Wang,Caroline Andrews,Koki Yamada,Joseph L. Demer,Shaheen Karim,Jeffry R. Alger,Daniel H. Geschwind,Thomas Deller,Nancy L. Sicotte,Stanley F. Nelson,Robert W. Baloh,Elizabeth C. Engle +35 more
TL;DR: In patients affected with HGPPS, mutations in the ROBO3 gene are identified, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse, and is required for hindbrain axon midline crossing.
Journal ArticleDOI
Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society.
Michael Strupp,Ji Soo Kim,Toshihisa Murofushi,Dominik Straumann,Joanna C. Jen,Sally M. Rosengren,Charles C. Della Santina,Herman Kingma +7 more
TL;DR: The diagnostic criteria for bilateral vestibulopathy (BVP) by the Classification Committee of the Bárány Society is described, which requires bilaterally significantly impaired or absent function of the vestibulo-ocular reflex (VOR).
Journal ArticleDOI
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.
Udo Rüb,Ludger Schöls,Henry L. Paulson,Georg Auburger,Pawel Kermer,Joanna C. Jen,Kay Seidel,Horst-Werner Korf,Thomas Deller +8 more
TL;DR: The present review summarizes the current knowledge about the polyglutamine ataxias SCA1,SCA2, SCA3, SCa6 and SCA7 and compares their clinical and electrophysiological features, genetic and molecular biological background, as well as their brain pathologies.
Journal ArticleDOI
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Andrea Legati,Donatella Giovannini,Gaël Nicolas,Uriel López-Sánchez,Beatriz Quintáns,João Ricardo Mendes de Oliveira,Renee L. Sears,Renee L. Sears,Eliana Marisa Ramos,Elizabeth Spiteri,María Jesús Sobrido,Angel Carracedo,Cristina Castro-Fernández,Stéphanie Cubizolle,Brent L. Fogel,Cyril Goizet,Joanna C. Jen,Suppachok Kirdlarp,Anthony E. Lang,Zosia Miedzybrodzka,Witoon Mitarnun,Martin Paucar,Henry L. Paulson,Jérémie Pariente,Anne Claire Richard,Naomi Salins,Sheila A Simpson,Pasquale Striano,Per Svenningsson,François Tison,Vivek K. Unni,Olivier Vanakker,Marja W. Wessels,Suppachok Wetchaphanphesat,Michele Yang,François Boller,Dominique Campion,Didier Hannequin,Marc Sitbon,Daniel H. Geschwind,Jean-Luc Battini,Giovanni Coppola +41 more
TL;DR: This work has identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function that alters phosphate export, implicating X PR1 and phosphate homeostasis in PFBC.