The Helix
Articles
- Open AccessOverlap between Parkinson disease and Alzheimer disease in ABCA7 functional variantsKaren Nuytemans, Lizmarie Maldonado, Aleena Ali, Krista John-Williams, Gary W. Beecham, Eden Martin, William K. Scott, Jeffery M. Vance
- Open AccessX-inactivation in the clinical phenotype of fragile X premutation carrier sistersDeborah A. Hall, Erin E. Robertson-Dick, Joan A. O'Keefe, Andrew G. Hadd, Lili Zhou, Elizabeth Berry-Kravis
- Open AccessSegregation of a rare TTC3 variant in an extended family with late-onset Alzheimer diseaseMartin 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
- Open AccessDysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsyMikko Muona, Yuko Fukata, Anna-Kaisa Anttonen, Anni Laari, Aarno Palotie, Helena Pihko, Tuula Lönnqvist, Leena Valanne, Mirja Somer, Masaki Fukata, Anna-Elina Lehesjoki
- Open AccessAtypical parkinsonism caused by Pro105Leu mutation of prion proteinA broad clinical spectrumKagari 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
- Open AccessTubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1Hidehiko Okuma, Fumiaki Saito, Jun Mitsui, Yuji Hara, Yuki Hatanaka, Miki Ikeda, Teruo Shimizu, Kiichiro Matsumura, Jun Shimizu, Shoji Tsuji, Masahiro Sonoo
- Open AccessIn silico prioritization based on coexpression can aid epileptic encephalopathy gene discoveryKaren L. Oliver, Vesna Lukic, Saskia Freytag, Ingrid E. Scheffer, Samuel F. Berkovic, Melanie Bahlo
Clinical/Scientific Notes
- Open AccessLate diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblingsPatrick Ferreira, Stephanie M. Luco, Sarah L. Sawyer, Jorge Davila, Kym M. Boycott, David A. Dyment
- Open AccessCo-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndromeLance H. Rodan, Maria Zak, James Stavropoulos, Ann M. Joseph-George, Berge A. Minassian
- Open AccessWhite matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutationsFatima Ameur, Olivier Colliot, Paola Caroppo, Sebastian Ströer, Didier Dormont, Alexis Brice, Carole Azuar, Bruno Dubois, Isabelle Le Ber, Anne Bertrand
- Open AccessBenign hereditary chorea related to NKX2-1 with ataxia and dystoniaClaudio M. de Gusmao, Fernando Kok, Erasmo Barbante Casella, Jeff L. Waugh
- Open AccessPolyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 geneJeroen de Filette, Danielle Hasaerts, Sara Seneca, Alexander Gheldof, Katrien Stouffs, Kathelijn Keymolen, Brigitte Velkeniers
- Open AccessExpanding the ataxia with oculomotor apraxia type 4 phenotypeMartin Paucar, Helena Malmgren, Malcolm Taylor, John J. Reynolds, Per Svenningsson, Rayomand Press, Ann Nordgren
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