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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 2016; 2 (1)

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The Helix

  • Open Access
    Genetics of neurodegenerative diseases
    Stefan M. Pulst
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Articles

  • Open Access
    Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants
    Karen Nuytemans, Lizmarie Maldonado, Aleena Ali, Krista John-Williams, Gary W. Beecham, Eden Martin, William K. Scott, Jeffery M. Vance
    • Abstract
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  • Open Access
    X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
    Deborah A. Hall, Erin E. Robertson-Dick, Joan A. O'Keefe, Andrew G. Hadd, Lili Zhou, Elizabeth Berry-Kravis
    • Abstract
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  • Open Access
    Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease
    Martin A. Kohli, Holly N. Cukier, Kara L. Hamilton-Nelson, Sophie Rolati, Brian W. Kunkle, Patrice L. Whitehead, Stephan L. Züchner, Lindsay A. Farrer, Eden R. Martin, Gary W. Beecham, Jonathan L. Haines, Jeffery M. Vance, Michael L. Cuccaro, John R. Gilbert, Gerard D. Schellenberg, Regina M. Carney, Margaret A. Pericak-Vance
    • Abstract
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  • Open Access
    Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy
    Mikko Muona, Yuko Fukata, Anna-Kaisa Anttonen, Anni Laari, Aarno Palotie, Helena Pihko, Tuula Lönnqvist, Leena Valanne, Mirja Somer, Masaki Fukata, Anna-Elina Lehesjoki
    • Abstract
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  • Open Access
    Atypical parkinsonism caused by Pro105Leu mutation of prion proteinA broad clinical spectrum
    Kagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, Hiroyuki Ishiura, Shin-ichi Tokushige, Yuji Takahashi, Naoko Saito Sato, Fumiko Kusunoki Nakamoto, Yaeko Ichikawa, Yu Nagashima, Yasuo Terao, Jun Shimizu, Masashi Hamada, Yoshikazu Uesaka, Genko Oyama, Go Ogawa, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto
    • Abstract
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  • Open Access
    Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1
    Hidehiko Okuma, Fumiaki Saito, Jun Mitsui, Yuji Hara, Yuki Hatanaka, Miki Ikeda, Teruo Shimizu, Kiichiro Matsumura, Jun Shimizu, Shoji Tsuji, Masahiro Sonoo
    • Abstract
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  • Open Access
    In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery
    Karen L. Oliver, Vesna Lukic, Saskia Freytag, Ingrid E. Scheffer, Samuel F. Berkovic, Melanie Bahlo
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Clinical/Scientific Notes

  • Open Access
    Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings
    Patrick Ferreira, Stephanie M. Luco, Sarah L. Sawyer, Jorge Davila, Kym M. Boycott, David A. Dyment
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  • Open Access
    Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
    Lance H. Rodan, Maria Zak, James Stavropoulos, Ann M. Joseph-George, Berge A. Minassian
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  • Open Access
    White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations
    Fatima Ameur, Olivier Colliot, Paola Caroppo, Sebastian Ströer, Didier Dormont, Alexis Brice, Carole Azuar, Bruno Dubois, Isabelle Le Ber, Anne Bertrand
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  • Open Access
    Benign hereditary chorea related to NKX2-1 with ataxia and dystonia
    Claudio M. de Gusmao, Fernando Kok, Erasmo Barbante Casella, Jeff L. Waugh
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  • Open Access
    Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene
    Jeroen de Filette, Danielle Hasaerts, Sara Seneca, Alexander Gheldof, Katrien Stouffs, Kathelijn Keymolen, Brigitte Velkeniers
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  • Open Access
    Expanding the ataxia with oculomotor apraxia type 4 phenotype
    Martin Paucar, Helena Malmgren, Malcolm Taylor, John J. Reynolds, Per Svenningsson, Rayomand Press, Ann Nordgren
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