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Works (5)

A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype

International Journal of Molecular Sciences
2023-11-09 | Journal article
Contributors: Katarzyna Robaszkiewicz; Małgorzata Siatkowska; Renske I. Wadman; Erik-Jan Kamsteeg; Zhiyong Chen; Ashirwad Merve; Matthew Parton; Enrico Bugiardini; Charlotte de Bie; Joanna Moraczewska
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 A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

BMC Neurology
2023-05-05 | Journal article
Contributors: Zhiyong Chen; Monica Saini; Jasmine Shimin Koh; Gareth Zigui Lim; Nancy Jiaojiao Dang; Kalpana Prasad; Swee Hoon Koh; Karine Su Shan Tay; Ming Lee; Helen Lisa Ong et al.
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Syphilitic Spinal Disease: An Old Nemesis Revisited. A Case Series and Review of Literature

Sexually Transmitted Diseases
2021-09 | Journal article
Contributors: Pei Xuan Koh; Shermyn Xiumin Neo; Hui Jin Chiew; Dinesh Rambachan Singh; Monica Saini; Zhiyong Chen
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Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort

Clinical Genetics
2020-09 | Journal article
Contributors: Zhiyong Chen; Zheyu Xu; Qianhui Cheng; Yi Jayne Tan; Helen L. Ong; Yi Zhao; Weng Khong Lim; Jing Xian Teo; Jia Nee Foo; Hwei Yee Lee et al.
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NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor/ataxia syndrome

Brain
2020-08-01 | Journal article
Contributors: Adeline S L Ng; Zheyu Xu; Zhiyong Chen; Yi Jayne Tan; Weng Khong Lim; Simon K S Ting; Wai Yung Yu; Qian Hui Cheng; Jia Nee Foo; Eng King Tan et al.
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Peer review (4 reviews for 1 publication/grant)

Review activity for Orphanet journal of rare diseases. (4)