Works by Chen, Jin-Yun


Results: 18
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    Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 411, doi. 10.1002/mdc3.13976
    By:
    • Stephen, Christopher D.;
    • de Gusmao, Claudio Melo;
    • Srinivasan, Sharan R.;
    • Olsen, Abby;
    • Freua, Fernando;
    • Kok, Fernando;
    • Montes Garcia Barbosa, Renata;
    • Chen, Jin Yun;
    • Appleby, Brian S.;
    • Prior, Thomas;
    • Frosch, Matthew P.;
    • Schmahmann, Jeremy D.
    Publication type:
    Article
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    The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03083-3
    By:
    • Nagy, Amanda;
    • Molay, Francine;
    • Hargadon, Sarah;
    • Brito Pires, Claudia;
    • Grant, Natalie;
    • De La Rosa Abreu, Lizbeth;
    • Chen, Jin Yun;
    • D'Souza, Precilla;
    • Macnamara, Ellen;
    • Tifft, Cynthia;
    • Becker, Catherine;
    • Melo De Gusmao, Claudio;
    • Khurana, Vikram;
    • Neumeyer, Ann M.;
    • Eichler, Florian S.
    Publication type:
    Article
    5

    Association of CNVs with methylation variation.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00145-w
    By:
    • Shi, Xinghua;
    • Radhakrishnan, Saranya;
    • Wen, Jia;
    • Chen, Jin Yun;
    • Chen, Junjie;
    • Lam, Brianna Ashlyn;
    • Mills, Ryan E.;
    • Stranger, Barbara E.;
    • Lee, Charles;
    • Setlur, Sunita R.
    Publication type:
    Article
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    Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

    Published in:
    2021
    By:
    • Wiessner, Manuela;
    • Maroofian, Reza;
    • Ni, Meng-Yuan;
    • Pedroni, Andrea;
    • Müller, Juliane S;
    • Stucka, Rolf;
    • Beetz, Christian;
    • Efthymiou, Stephanie;
    • Santorelli, Filippo M;
    • Alfares, Ahmed A;
    • Zhu, Changlian;
    • Meszarosova, Anna Uhrova;
    • Alehabib, Elham;
    • Bakhtiari, Somayeh;
    • Janecke, Andreas R;
    • Otero, Maria Gabriela;
    • Chen, Jin Yun Helen;
    • Peterson, James T;
    • Strom, Tim M;
    • Jonghe, Peter De
    Publication type:
    journal article
    17

    Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

    Published in:
    2021
    By:
    • Wiessner, Manuela;
    • Maroofian, Reza;
    • Ni, Meng-Yuan;
    • Pedroni, Andrea;
    • Müller, Juliane S;
    • Stucka, Rolf;
    • Beetz, Christian;
    • Efthymiou, Stephanie;
    • Santorelli, Filippo M;
    • Alfares, Ahmed A;
    • Zhu, Changlian;
    • Meszarosova, Anna Uhrova;
    • Alehabib, Elham;
    • Bakhtiari, Somayeh;
    • Janecke, Andreas R;
    • Otero, Maria Gabriela;
    • Chen, Jin Yun Helen;
    • Peterson, James T;
    • Strom, Tim M;
    • Jonghe, Peter De
    Publication type:
    journal article
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