Works matching AU Chen, Zhongbo


Results: 55
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    The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.

    Published in:
    Movement Disorders, 2025, v. 40, n. 2, p. 363, doi. 10.1002/mds.30077
    By:
    • Chen, Zhongbo;
    • Alvarez Jerez, Pilar;
    • Anderson, Claire;
    • Paucar, Martin;
    • Lee, Jasmaine;
    • Nilsson, Daniel;
    • Macpherson, Hannah;
    • Scardamaglia, Annarita;
    • Montgomery, Kylie;
    • Hardy, John;
    • Singleton, Andrew B.;
    • Tucci, Arianna;
    • Mathews, Katherine D.;
    • Fu, Ying‐Hui;
    • Engvall, Martin;
    • Laffita‐Mesa, José;
    • Nennesmo, Inger;
    • Wedell, Anna;
    • Ptáček, Louis J.;
    • Blauwendraat, Cornelis
    Publication type:
    Article
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    Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

    Published in:
    Movement Disorders, 2024, v. 39, n. 3, p. 486, doi. 10.1002/mds.29704
    By:
    • Chen, Zhongbo;
    • Gustavsson, Emil K.;
    • Macpherson, Hannah;
    • Anderson, Claire;
    • Clarkson, Chris;
    • Rocca, Clarissa;
    • Self, Eleanor;
    • Alvarez Jerez, Pilar;
    • Scardamaglia, Annarita;
    • Pellerin, David;
    • Montgomery, Kylie;
    • Lee, Jasmaine;
    • Gagliardi, Delia;
    • Luo, Huihui;
    • Hardy, John;
    • Polke, James;
    • Singleton, Andrew B.;
    • Blauwendraat, Cornelis;
    • Mathews, Katherine D.;
    • Tucci, Arianna
    Publication type:
    Article
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    Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.

    Published in:
    Movement Disorders, 2021, v. 36, n. 1, p. 251, doi. 10.1002/mds.28302
    By:
    • Yau, Wai Yan;
    • Vandrovcova, Jana;
    • Sullivan, Roisin;
    • Chen, Zhongbo;
    • Zecchinelli, Anna;
    • Cilia, Roberto;
    • Stefano, Duga;
    • Murray, Malgorzata;
    • Carmona, Susana;
    • Chelban, Viorica;
    • Ishiura, Hiroyuki;
    • Tsuji, Shoji;
    • Jaunmuktane, Zane;
    • Turner, Chris;
    • Wood, Nicholas W.;
    • Houlden, Henry
    Publication type:
    Article
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    Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.

    Published in:
    2019
    By:
    • Chen, Zhongbo;
    • Chen, Jason A.;
    • Shatunov, Aleksey;
    • Jones, Ashley R.;
    • Kravitz, Stephanie N.;
    • Huang, Alden Y.;
    • Lawrence, Lauren;
    • Lowe, Jennifer K.;
    • Lewis, Cathryn M.;
    • Payan, Christine A. M.;
    • Lieb, Wolfgang;
    • Franke, Andre;
    • Deloukas, Panagiotis;
    • Amouyel, Philippe;
    • Tzourio, Christophe;
    • Dartigues, Jean‐François;
    • Ludolph, Albert;
    • Bensimon, Gilbert;
    • Leigh, P. Nigel;
    • Bronstein, Jeff M.
    Publication type:
    journal article
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    PhenoExam: gene set analyses through integration of different phenotype databases.

    Published in:
    BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-05122-x
    By:
    • Cisterna, Alejandro;
    • González-Vidal, Aurora;
    • Ruiz, Daniel;
    • Ortiz, Jordi;
    • Gómez-Pascual, Alicia;
    • Chen, Zhongbo;
    • Nalls, Mike;
    • Faghri, Faraz;
    • Hardy, John;
    • Díez, Irene;
    • Maietta, Paolo;
    • Álvarez, Sara;
    • Ryten, Mina;
    • Botía, Juan A.
    Publication type:
    Article
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    Neuronal intranuclear inclusion disease is genetically heterogeneous.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1716, doi. 10.1002/acn3.51151
    By:
    • Chen, Zhongbo;
    • Yan Yau, Wai;
    • Jaunmuktane, Zane;
    • Tucci, Arianna;
    • Sivakumar, Prasanth;
    • Gagliano Taliun, Sarah A.;
    • Turner, Chris;
    • Efthymiou, Stephanie;
    • Ibáñez, Kristina;
    • Sullivan, Roisin;
    • Bibi, Farah;
    • Athanasiou‐Fragkouli, Alkyoni;
    • Bourinaris, Thomas;
    • Zhang, David;
    • Revesz, Tamas;
    • Lashley, Tammaryn;
    • DeTure, Michael;
    • Dickson, Dennis W.;
    • Josephs, Keith A.;
    • Gelpi, Ellen
    Publication type:
    Article
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    Advice for smokers in smoking cessation clinic: a review.

    Published in:
    African Health Sciences, 2023, v. 23, n. 2, p. 374, doi. 10.4314/ahs.v23i2.42
    By:
    • Xuechan Yu;
    • Meihua Wang;
    • Jie cen;
    • Mianzhi Ye;
    • Sha Li;
    • Younuo Wang;
    • Qingwen Su;
    • Hui Chen;
    • Ruyi Xu;
    • Shuya Zhang;
    • Shanshan Wang;
    • Yiming Yu;
    • Zaichun Deng;
    • Zhongbo Chen
    Publication type:
    Article
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    IntroVerse: a comprehensive database of introns across human tissues.

    Published in:
    Nucleic Acids Research, 2023, v. 51, n. D1, p. D167, doi. 10.1093/nar/gkac1056
    By:
    • García-Ruiz, Sonia;
    • Gustavsson, Emil K;
    • Zhang, David;
    • Reynolds, Regina H;
    • Chen, Zhongbo;
    • Fairbrother-Browne, Aine;
    • Gil-Martínez, Ana Luisa;
    • Botia, Juan A;
    • Collado-Torres, Leonardo;
    • Ryten, Mina
    Publication type:
    Article
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    Concordance of CSF measures of Alzheimer’s pathology with amyloid PET status in a preclinical cohort: A comparison of Lumipulse and established immunoassays.

    Published in:
    Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12131
    By:
    • Keshavan, Ashvini;
    • Wellington, Henrietta;
    • Zhongbo Chen;
    • Khatun, Ayesha;
    • Chapman, Miles;
    • Hart, Melanie;
    • Cash, David M.;
    • Coath, William;
    • Parker, Thomas D.;
    • Buchanan, Sarah M.;
    • Keuss, Sarah E.;
    • Harris, Matthew J.;
    • Murray-Smith, Heidi;
    • Heslegrave, Amanda;
    • Fox, Nick C.;
    • Zetterberg, Henrik;
    • Schott, Jonathan M.
    Publication type:
    Article
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    Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
    By:
    • Chen, Zhongbo;
    • Maroofian, Reza;
    • Başak, A. Nazlı;
    • Shingavi, Leena;
    • Karakaya, Mert;
    • Efthymiou, Stephanie;
    • Gustavsson, Emil K.;
    • Meier, Leyla;
    • Polavarapu, Kiran;
    • Vengalil, Seena;
    • Preethish‐Kumar, Veeramani;
    • Nandeesh, Bevinahalli N.;
    • Gökçe Güneş, Nalan;
    • Akan, Onur;
    • Candan, Fatma;
    • Schrank, Bertold;
    • Zuchner, Stephan;
    • Murphy, David;
    • Kapoor, Mahima;
    • Ryten, Mina
    Publication type:
    Article
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    Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.

    Published in:
    Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0270-8
    By:
    • Chen, Jason A.;
    • Chen, Zhongbo;
    • Won, Hyejung;
    • Huang, Alden Y.;
    • Lowe, Jennifer K.;
    • Wojta, Kevin;
    • Yokoyama, Jennifer S.;
    • Bensimon, Gilbert;
    • Leigh, P. Nigel;
    • Payan, Christine;
    • Shatunov, Aleksey;
    • Jones, Ashley R.;
    • Lewis, Cathryn M.;
    • Deloukas, Panagiotis;
    • Amouyel, Philippe;
    • Tzourio, Christophe;
    • Dartigues, Jean-Francois;
    • Ludolph, Albert;
    • Boxer, Adam L.;
    • Bronstein, Jeff M.
    Publication type:
    Article
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    Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2869, doi. 10.1093/brain/awad009
    By:
    • Chen, Zhongbo;
    • Tucci, Arianna;
    • Cipriani, Valentina;
    • Gustavsson, Emil K;
    • Ibañez, Kristina;
    • Reynolds, Regina H;
    • Zhang, David;
    • Vestito, Letizia;
    • García, Alejandro Cisterna;
    • Sethi, Siddharth;
    • Brenton, Jonathan W;
    • García-Ruiz, Sonia;
    • Fairbrother-Browne, Aine;
    • Gil-Martinez, Ana-Luisa;
    • Consortium, Genomics England Research;
    • Wood, Nick;
    • Hardy, John A;
    • Smedley, Damian;
    • Houlden, Henry;
    • Botía, Juan
    Publication type:
    Article
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    Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 7/8/2016, p. 593, doi. 10.1080/21678421.2016.1213852
    By:
    • Gaastra, Benjamin;
    • Shatunov, Aleksey;
    • Pulit, Sara;
    • Jones, Ashley R.;
    • Sproviero, William;
    • Gillett, Alexandra;
    • Chen, Zhongbo;
    • Kirby, Janine;
    • Fogh, Isabella;
    • Powell, John F.;
    • Leigh, P. Nigel;
    • Morrison, Karen E.;
    • Shaw, Pamela J.;
    • Shaw, Christopher E.;
    • van den Berg, Leonard H.;
    • Veldink, Jan H.;
    • Lewis, Cathryn M.;
    • Al-Chalabi, Ammar
    Publication type:
    Article