Articles
- Open AccessAdult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 GeneAngela Sung, Paolo Moretti, Aziz Shaibani
- Open AccessOccurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher DiseaseLais M. Oliveira, Tara Rastin, Graeme A.M. Nimmo, Jay P. Ross, Patrick A. Dion, Ming Zhang, Dayna-Lynn Nevay, David Arkadir, Marc Gotkine, Carolina Barnett, Christen L. Shoesmith, Ari Zimran, Ekaterina A. Rogaeva, Lorne Zinman, Guy A. Rouleau, Ziv Gan-Or, Dominick Amato, Lorraine V. Kalia
- Open AccessMutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual DisabilitySara A. Lewis, Somayeh Bakhtiari, Jennifer Heim, Patricia Cornejo, James Liu, Aris Huang, Andrew Musmacker, Sheng Chih Jin, Kaya Bilguvar, Sergio R. Padilla-Lopez, Michael C. Kruer
- Open AccessSMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral SclerosisJeroen W. Bos, Ewout J.N. Groen, Renske I. Wadman, Chantall A.D. Curial, Naomi N. Molleman, Marinka Zegers, Paul W.J. van Vught, Reinier Snetselaar, Raymon Vijzelaar, W. Ludo van der Pol, Leonard H. van den Berg
- Open AccessEffect of Body Weight on Age at Onset in Huntington DiseaseA Mendelian Randomization StudyJorien M.M. van der Burg, Patrick Weydt, Georg Bernhard Landwehrmeyer, N. Ahmad Aziz
- Open AccessBrain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore SequencingCharles Jourdan Reyes, Björn-Hergen Laabs, Susen Schaake, Theresa Lüth, Raphaela Ardicoglu, Aleksandar Rakovic, Karen Grütz, Daniel Alvarez-Fischer, Roland Dominic Jamora, Raymond L. Rosales, Imke Weyers, Inke R. König, Norbert Brüggemann, Christine Klein, Valerija Dobricic, Ana Westenberger, Joanne Trinh
- Open AccessHighly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder EffectJamie N. Leckie, Matthew M. Joel, Kristina Martens, Alexandra King, Malcolm King, Lawrence W. Korngut, A.P. Jason de Koning, Gerald Pfeffer, Kerri L. Schellenberg
- Open AccessAutosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal DysplasiaAziz Shaibani, Shaida Khan, Marwan Shinawi
- Open AccessDisease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic ParaplegiaCatherine Jordan, Gregory Geisel, Julian E. Alecu, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari
Clinical/Scientific Notes
- Open AccessAtaxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 AlleleAlana E. Kirby, Virginia Kimonis, Katie Kompoliti
- Open AccessCase of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted ImagingMai Kikumoto, Tomohisa Nezu, Yuji Shiga, Atsuko Motoda, Megumi Toko, Takashi Kurashige, Hiroki Ueno, Tetsuya Takahashi, Hiroyuki Morino, Jun Sone, Yasushi Iwasaki, Gen Sobue, Hirofumi Maruyama
- Open AccessPARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1Changrui Xiao, Thomas Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William Gahl, Camilo Toro
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