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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 2019; 5 (2)

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Editorial

  • Open Access
    Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization
    Sara Bandres-Ciga, Faraz Faghri
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Articles

  • Open Access
    Genomic variation in educational attainment modifies Alzheimer disease risk
    Neha S. Raghavan, Badri Vardarajan, Richard Mayeux
    • Abstract
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  • Open Access
    Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
    Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta
    • Abstract
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  • Open Access
    Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
    Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews
    • Abstract
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  • Open Access
    Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
    Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang
    • Abstract
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  • Open Access
    Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
    Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau
    • Abstract
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  • Open Access
    Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
    Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl
    • Abstract
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  • Open Access
    Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
    Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott
    • Abstract
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  • Open Access
    Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
    Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets
    • Abstract
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  • Open Access
    Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
    Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
    Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein
    • Full Text
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  • Open Access
    Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
    Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka
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Views and Reviews

  • Open Access
    Antisense oligonucleotidesA primer
    Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst
    • Abstract
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