Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China by Lei Liu, Xiao-Bo Li, Zheng-Mao Hu, Shun-Xiang Huang, Bei-Sha Tang, Ru-Xu Zhang, Xin Chen

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Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth by Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang

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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. by Zhan-fang Sun, Yu-han Zhang, Ji-feng Guo, Qi-ying Sun, Jun-pu Mei, Han-lin Zhou, Li-ping Guan, Jin-yong Tian, Zheng-mao Hu, Jia-da Li, Kun Xia, Xin-xiang Yan, Bei-sha Tang

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Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy by Hande Aypek, Christoph Krisp, Shun Lu, Shuya Liu, Dominik Kylies, Oliver Kretz, Guochao Wu, Manuela Moritz, Kerstin Amann, Kerstin Benz, Ping Tong, Zheng-mao Hu, Sulaiman M. Alsulaiman, Arif O. Khan, Maik Grohmann, Timo Wagner, Janina Müller-Deile, Hartmut Schlüter, Victor G. Puelles, Carsten Bergmann, Tobias B. Huber, Florian Grahammer

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