Articles

• Open Access

  Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

  Xia Tian, Wen-Chen Liang, Yanming Feng, Jing Wang, Victor Wei Zhang, Chih-Hung Chou, Hsien-Da Huang, Ching Wan Lam, Ya-Yun Hsu, Thy-Sheng Lin, Wan-Tzu Chen, Lee-Jun Wong, Yuh-Jyh Jong

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  Late-onset Alzheimer disease risk variants mark brain regulatory loci

  Mariet Allen, Michaela Kachadoorian, Minerva M. Carrasquillo, Aditya Karhade, Lester Manly, Jeremy D. Burgess, Chen Wang, Daniel Serie, Xue Wang, Joanna Siuda, Fanggeng Zou, High Seng Chai, Curtis Younkin, Julia Crook, Christopher Medway, Thuy Nguyen, Li Ma, Kimberly Malphrus, Sarah Lincoln, Ronald C. Petersen, Neill R. Graff-Radford, Yan W. Asmann, Dennis W. Dickson, Steven G. Younkin, Nilüfer Ertekin-Taner

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  Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

  Ashley P.L. Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M. Ryan, Eppie M. Yiu, Joe C.H. Sim, Martin B. Delatycki, David J. Amor, George McGillivray, Elliott H. Sherr, Melanie Bahlo, Richard J. Leventer, Paul J. Lockhart

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  Epileptic spasms are a feature of DEPDC5 mTORopathy

  Gemma L. Carvill, Douglas E. Crompton, Brigid M. Regan, Jacinta M. McMahon, Julia Saykally, Matthew Zemel, Amy L. Schneider, Leanne Dibbens, Katherine B. Howell, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Saul A. Mullen, Samuel F. Berkovic, Joseph Sullivan, Ingrid E. Scheffer, Heather C. Mefford

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  Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathyAn ALS mimicker

  Namita A. Goyal, Tahseen Mozaffar

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