The Helix
- Open Access2017 Year in Review and Message from the Editors to Our ReviewersStefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
Articles
- Open AccessBiallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth
- Open AccessAlzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)Mira Mäkelä, Karri Kaivola, Miko Valori, Anders Paetau, Tuomo Polvikoski, Andrew B. Singleton, Bryan J. Traynor, David J. Stone, Terhi Peuralinna, Pentti J. Tienari, Maarit Tanskanen, Liisa Myllykangas
- Open AccessFamilial monophasic acute transverse myelitis due to the pathogenic variant in VPS37AMaureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
- Open AccessDiagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Christopher Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Yael Shiloh-Malawsky, Kristy R. Crooks, Natasha Strande, Michael Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen Weck, James P. Evans, Jonathan S. Berg
- Open AccessDuplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
- Open AccessCYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa L. Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A. Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A. Rouleau, Judes Poirier, David A. Bennett, Pedro Rosa-Neto, for the Alzheimer's Disease Neuroimaging Initiative
- Open AccessAP4 deficiencyA novel form of neurodegeneration with brain iron accumulation?Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers
Clinical/Scientific Notes
- Open AccessExpanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domainAnne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
- Open AccessLate-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian familySarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste
- Open AccessHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesCemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
- Open Access1q21.1 Duplication syndrome and epilepsyCase report and reviewIoulia Gourari, Romaine Schubert, Aparna Prasad
- Open AccessNovel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathyRicardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke
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