Articles

• Open Access

  Genomic variation in educational attainment modifies Alzheimer disease risk

  Neha S. Raghavan, Badri Vardarajan, Richard Mayeux

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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