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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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February 2018; 4 (1)

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The Helix

  • Open Access
    2017 Year in Review and Message from the Editors to Our Reviewers
    Stefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
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Articles

  • Open Access
    Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
    Natalia 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
    • Abstract
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  • Open Access
    Alzheimer 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
    • Abstract
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  • Open Access
    Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
    Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
    • Abstract
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  • Open Access
    Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
    Gloria 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
    • Abstract
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  • Open Access
    Duplications at 19q13.33 in patients with neurodevelopmental disorders
    Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V. De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A. Neubauer, Dennis Lal
    • Abstract
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  • Open Access
    CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem
    Andréa 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
    • Abstract
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  • Open Access
    AP4 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
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Clinical/Scientific Notes

  • Open Access
    Expanding the ADCY5 phenotype toward spastic paraparesisA mutation in the M2 domain
    Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. de Koning, Marina A.J. Tijssen
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  • Open Access
    Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
    Sarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste
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  • Open Access
    Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
    Cemile Kocoglu, Asli Gundogdu, Gulsen Kocaman, Pinar Kahraman-Koytak, Kayihan Uluc, Gunes Kiziltan, Ahmet Okay Caglayan, Kaya Bilguvar, Atay Vural, A. Nazli Basak
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  • Open Access
    1q21.1 Duplication syndrome and epilepsyCase report and review
    Ioulia Gourari, Romaine Schubert, Aparna Prasad
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  • Open Access
    Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
    Ricardo H. Roda, Brett A. McCray, Christopher J. Klein, Ahmet Hoke
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