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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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June 2016; 2 (3)

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Articles

  • Open Access
    Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities
    Fadi Alkufri, Avraham Shaag, Bassam Abu-Libdeh, Orly Elpeleg
    • Abstract
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  • Open Access
    Spinocerebellar ataxia type 36 in the Han Chinese
    Yi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
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  • Open Access
    Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci
    Fang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
    • Abstract
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  • Open Access
    Parkinson disease (PARK) genes are somatically mutated in cutaneous melanoma
    Rivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
    • Abstract
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  • Open Access
    Clinical and genetic features of cervical dystonia in a large multicenter cohort
    Mark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
    • Abstract
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  • Open Access
    DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient
    Liyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
    • Abstract
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  • Open Access
    Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD
    Sara Morais, Rita Bastos-Ferreira, Jorge Sequeiros, Isabel Alonso
    • Abstract
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  • Open Access
    Defining the spectrum of frontotemporal dementias associated with TARDBP mutations
    Paola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
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  • Open Access
    Mutation of TBCK causes a rare recessive developmental disorder
    Rita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
    • Abstract
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  • Open Access
    Next-generation profiling to identify the molecular etiology of Parkinson dementia
    Adrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
    • Abstract
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  • Open Access
    ABCA7 frameshift deletion associated with Alzheimer disease in African Americans
    Holly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
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Clinical/Scientific Notes

  • Open Access
    White matter involvement in a family with a novel PDGFB mutation
    Roberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
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  • Open Access
    FTL mutation in a Chinese pedigree with neuroferritinopathy
    Wang Ni, Hong-Fu Li, Yi-Cen Zheng, Zhi-Ying Wu
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  • Open Access
    Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
    Ikuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
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