Articles

• Open Access

  MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)

  Chantal Depondt, Simona Donatello, Myriam Rai, François Charles Wang, Mario Manto, Nicolas Simonis, Massimo Pandolfo

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  KCNQ2 encephalopathyFeatures, mutational hot spots, and ezogabine treatment of 11 patients

  John J. Millichap, Kristen L. Park, Tammy Tsuchida, Bruria Ben-Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M. Levisohn, Eric Marsh, Srishti Nangia, Vinodh Narayanan, Xilma R. Ortiz-Gonzalez, Marc C. Patterson, Phillip L. Pearl, Brenda Porter, Keri Ramsey, Emily L. McGinnis, Maurizio Taglialatela, Molly Tracy, Baouyen Tran, Charu Venkatesan, Sarah Weckhuysen, Edward C. Cooper

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  Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

  Jennifer Hirst, Marianna Madeo, Katrien Smets, James R. Edgar, Ludger Schols, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken, Jan De Bleecker, Manuel B. Datiles, Ricardo H. Roda, Joachim Liepert, Stephan Züchner, Caterina Mariotti, Peter De Jonghe, Craig Blackstone, Michael C. Kruer

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  Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk

  Brooke Rhead, Maria Bäärnhielm, Milena Gianfrancesco, Amanda Mok, Xiaorong Shao, Hong Quach, Ling Shen, Catherine Schaefer, Jenny Link, Alexandra Gyllenberg, Anna Karin Hedström, Tomas Olsson, Jan Hillert, Ingrid Kockum, M. Maria Glymour, Lars Alfredsson, Lisa F. Barcellos

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  Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

  Andrew G. Engel, Duygu Selcen, Xin-Ming Shen, Margherita Milone, C. Michel Harper

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  Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

  Julie van der Zee, Peter Mariën, Roeland Crols, Sara Van Mossevelde, Lubina Dillen, Federica Perrone, Sebastiaan Engelborghs, Jo Verhoeven, Tine D'aes, Chantal Ceuterick-De Groote, Anne Sieben, Jan Versijpt, Patrick Cras, Jean-Jacques Martin, Christine Van Broeckhoven

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