Research Articles
- Open AccessClinical Features and Classification of Neuronal Intranuclear Inclusion DiseaseHongfei 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
- Open AccessNeurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related SyndromeClaudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo
- Open AccessWhole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 DeficiencyEdoardo 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
- Open AccessA Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked AdrenoleukodystrophyKeith 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
Clinical/Scientific Notes
- Open AccessNew-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch
- Open AccessTranscriptome and Genome Analysis Uncovers a DMD Structural VariantA Case ReportChiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft
- Open AccessNovel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism PhenotypeA Case ReportCatherine Ashton, Mark Davis, Nigel Laing, Gianina Ravenscroft, Philippa Lamont
Advertisement
Popular on
Neurology: Genetics

Dr. Nicole Sur and Dr. Mausaminben Hathidara
► Watch
Advertisement