Research Articles

• Open Access

  Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease

  Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

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  Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome

  Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

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  Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency

  Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

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  A Phase 1 Study of Oral Vitamin D₃ in Boys and Young Men With X-Linked Adrenoleukodystrophy

  Keith P. Van Haren, Kristen Cunanan, Avni Awani, Meng Gu, Dalia Peña, Lindsay C. Chromik, Michal Považan, Nicole C. Rossi, Jordan Goodman, Vandana Sundaram, Jennifer Winterbottom, Gerald V. Raymond, Tina Cowan, Gregory M. Enns, Emmanuelle Waubant, Lawrence Steinman, Peter B. Barker, Daniel Spielman, Ali Fatemi

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