The Helix
Editorial
Articles
- Open AccessMME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)Chantal Depondt, Simona Donatello, Myriam Rai, François Charles Wang, Mario Manto, Nicolas Simonis, Massimo Pandolfo
- Open AccessKCNQ2 encephalopathyFeatures, mutational hot spots, and ezogabine treatment of 11 patientsJohn 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
- Open AccessComplicated 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
- Open AccessMendelian randomization shows a causal effect of low vitamin D on multiple sclerosis riskBrooke 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
- Open AccessLoss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaAndrew G. Engel, Duygu Selcen, Xin-Ming Shen, Margherita Milone, C. Michel Harper
- Open AccessMutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTDJulie 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
Clinical/Scientific Notes
- Open AccessOutdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassessLauren Bogue, Sindhu Ramchandren
- Open AccessNovel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndromeThanes Termglinchan, Seito Hisamatsu, Junko Ohmori, Hiroshi Suzumura, Noriko Sumitomo, George Imataka, Osamu Arisaka, Nobuyuki Murakami, Narihiro Minami, Ishiyama Akihiko, Masayuki Sasaki, Yuichi Goto, Satoru Noguchi, Ikuya Nonaka, Satomi Mitsuhashi, Ichizo Nishino
- Open AccessNovel mutation in mitochondrial DNA in 2 siblings with Leigh syndromeAravindhan Veerapandiyan, Amit Chaudhari, Christin M. Traba, Xue Ming
- Open AccessLate-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2ADavid S. Lynch, Nicholas W. Wood, Henry Houlden
- Open AccessGBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysisVictoria Mallett, Jay P. Ross, Roy N. Alcalay, Amirthagowri Ambalavanan, Ellen Sidransky, Patrick A. Dion, Guy A. Rouleau, Ziv Gan-Or
- Open AccessNovel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disabilitySofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau
Advertisement
Popular on
Neurology: Genetics

Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Dr. Brian Callaghan and Dr. Kellen Quigg
► Watch
Advertisement