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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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April 2021; 7 (2)

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Article

  • Open Access
    Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
    Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
    • Abstract
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  • Open Access
    Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
    Isabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
    • Abstract
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  • Open Access
    LBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
    Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
    • Abstract
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  • Open Access
    Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
    Eliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
    • Abstract
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  • Open Access
    Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease
    Janardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
    • Abstract
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  • Open Access
    Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
    Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
    • Abstract
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  • Open Access
    African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
    Suzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
    • Abstract
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  • Open Access
    Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
    Kelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
    Flávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
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  • Open Access
    Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene
    Chineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
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Correction

  • V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
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Editorial

  • Open Access
    Race and Alzheimer Disease BiomarkersA Neglected Race
    Alberto Lleó, Marc Suárez-Calvet
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