Editorial
- Open AccessUnraveling the genetic complexity of Alzheimer disease with Mendelian RandomizationSara Bandres-Ciga, Faraz Faghri
Articles
- Open AccessGenomic variation in educational attainment modifies Alzheimer disease riskNeha S. Raghavan, Badri Vardarajan, Richard Mayeux
- Open AccessHomozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposisJose 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
- Open AccessClinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>GAngela 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
- Open AccessLoss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypesChong 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
- Open AccessSomatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissuesJay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau
- Open AccessLithium chloride corrects weakness and myopathology in a preclinical model of LGMD1DAndrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl
- Open AccessNovel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZIlona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott
- Open AccessMuscular dystrophy with arrhythmia caused by loss-of-function mutations in BVESWillem 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
- Open AccessAutosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathyAlejandro 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
Clinical/Scientific Notes
- Open AccessMitochondrial 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
- Open AccessLeaky 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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