Articles

• Open Access

  Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene

  Angela Sung, Paolo Moretti, Aziz Shaibani

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  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

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  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

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  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

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  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

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  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

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  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

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  Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia

  Aziz Shaibani, Shaida Khan, Marwan Shinawi

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  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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