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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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August 2021; 7 (4)

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Articles

  • Open Access
    Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene
    Angela Sung, Paolo Moretti, Aziz Shaibani
    • Abstract
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  • Open Access
    Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease
    Lais 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
    • Abstract
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  • Open Access
    Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability
    Sara 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
    • Abstract
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  • Open Access
    SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis
    Jeroen 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
    • Abstract
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  • Open Access
    Effect of Body Weight on Age at Onset in Huntington DiseaseA Mendelian Randomization Study
    Jorien M.M. van der Burg, Patrick Weydt, Georg Bernhard Landwehrmeyer, N. Ahmad Aziz
    • Abstract
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  • Open Access
    Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing
    Charles 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
    • Abstract
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  • Open Access
    Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect
    Jamie N. Leckie, Matthew M. Joel, Kristina Martens, Alexandra King, Malcolm King, Lawrence W. Korngut, A.P. Jason de Koning, Gerald Pfeffer, Kerri L. Schellenberg
    • Abstract
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  • Open Access
    Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia
    Aziz Shaibani, Shaida Khan, Marwan Shinawi
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  • Open Access
    Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia
    Catherine Jordan, Gregory Geisel, Julian E. Alecu, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari
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Clinical/Scientific Notes

  • Open Access
    Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele
    Alana E. Kirby, Virginia Kimonis, Katie Kompoliti
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  • Open Access
    Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging
    Mai 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
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  • Open Access
    PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1
    Changrui Xiao, Thomas Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William Gahl, Camilo Toro
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Corrections

  • KCNQ2 Encephalopathy Manifesting With Rett-like FeaturesA Follow-up Into Adulthood
    • Full Text
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  • Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy
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