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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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Editorial

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

  • 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
    • Full Text
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  • 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
    • Full Text
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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
    Polygenic Risk Scores Augment Stroke Subtyping
    Jiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
    • 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
    Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
    Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
    • Abstract
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  • Open Access
    Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case Report
    Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
    • 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
    • Full Text
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  • Open Access
    Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
    Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
    • 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
    Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
    Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
    • 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
    • Full Text
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  • Open Access
    Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
    Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
    • Abstract
    • Full Text
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  • Open Access
    Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
    Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
    • Abstract
    • Full Text
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  • Open Access
    Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
    Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
    Kyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
    • Full Text
    • Full Text (PDF)
  • 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
    • Full Text
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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
    • Full Text
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  • Open Access
    U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
    Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
    • Full Text
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Correction

  • V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
    • Full Text
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