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  1. Article

    Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers

    Multiple mitochondrial dysfunctions syndrome (MMDS) is an autosomal recessive disorder of systemic energy metabolism. This study is to present the diagnosis of two MMDS Chinese sufferers. Physical and auxiliar...

    Danqun **, Tian Yu, Le Zhang, Tao Wang, Jun Hu… in Journal of Molecular Neuroscience (2017)

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    Article

    Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings

    This study presents two Chinese siblings with a rare neurodevelopmental disorder (NDD) caused by biallelic INTS1 mutations and investigates the clinical features of this disease by means of in silico analysis. Tw...

    Xuemin Zhang, Yajian Wang, Fang Yang, Jiulai Tang… in Journal of Molecular Neuroscience (2020)