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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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June 2019; 5 (3)

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Editorial

  • Open Access
    HACE1, RAC1, and what else in the pathogenesis of SPPRS?
    Han-Xiang Deng
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Articles

  • Open Access
    HACE1 deficiency leads to structural and functional neurodevelopmental defects
    Vanja Nagy, Ronja Hollstein, Tsung-Pin Pai, Michel K. Herde, Pisanu Buphamalai, Paul Moeseneder, Ewelina Lenartowicz, Anoop Kavirayani, Georg Christoph Korenke, Ivona Kozieradzki, Roberto Nitsch, Ana Cicvaric, Francisco J. Monje Quiroga, Matthew A. Deardorff, Emma C. Bedoukian, Yun Li, Gökhan Yigit, Jörg Menche, E. Ferda Perçin, Bernd Wollnik, Christian Henneberger, Frank J. Kaiser, Josef M. Penninger
    • Abstract
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  • Open Access
    Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
    Yuka Urata, Masayuki Nakamura, Natsuki Sasaki, Nari Shiokawa, Yoshiaki Nishida, Kaoru Arai, Hanae Hiwatashi, Izumi Yokoyama, Shinsuke Narumi, Yasuo Terayama, Takenobu Murakami, Yoshikazu Ugawa, Hiroki Sakamoto, Satoshi Kaneko, Yusuke Nakazawa, Ryo Yamasaki, Shoko Sadashima, Toshiaki Sakai, Hiroaki Arai, Akira Sano
    • Abstract
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  • Open Access
    Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training
    Alice S. Ryan, Huichun Xu, Frederick M. Ivey, Richard F. Macko, Charlene E. Hafer-Macko
    • Abstract
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  • Open Access
    Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis
    Yoshiaki Nishida, Masayuki Nakamura, Yuka Urata, Kei Kasamo, Hanae Hiwatashi, Izumi Yokoyama, Masahiro Mizobuchi, Kotaro Sakurai, Yasushi Osaki, Yukari Morita, Masako Watanabe, Kenji Yoshida, Kiyomi Yamane, Natsuki Miyakoshi, Ryouichi Okiyama, Takehiro Ueda, Noritaka Wakasugi, Yuji Saitoh, Takashi Sakamoto, Yuji Takahashi, Ken Shibano, Hideki Tokuoka, Atsushi Hara, Kazunari Monma, Katsuhisa Ogata, Keita Kakuda, Hideki Mochizuki, Takeo Arai, Manabu Araki, Takeshi Fujii, Kazuto Tsukita, Haruhi Sakamaki-Tsukita, Akira Sano
    • Abstract
    • Full Text
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  • Open Access
    HTT haplogroups in Finnish patients with Huntington disease
    Susanna Ylönen, Jussi O.T. Sipilä, Marja Hietala, Kari Majamaa
    • Abstract
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  • Open Access
    Oligogenic basis of sporadic ALSThe example of SOD1 p.Ala90Val mutation
    Liina Kuuluvainen, Karri Kaivola, Saana Mönkäre, Hannu Laaksovirta, Manu Jokela, Bjarne Udd, Miko Valori, Petra Pasanen, Anders Paetau, Bryan J. Traynor, David J. Stone, Johanna Schleutker, Minna Pöyhönen, Pentti J. Tienari, Liisa Myllykangas
    • Abstract
    • Full Text
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  • Open Access
    Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease
    Christopher Newell, Aneal Khan, David Sinasac, John Shoffner, Marisa W. Friederich, Johan L.K. Van Hove, Stacey Hume, Jane Shearer, Iveta Sosova
    • Abstract
    • Full Text
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  • Open Access
    Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
    Anna Vihola, Johanna Palmio, Olof Danielsson, Sini Penttilä, Daniel Louiselle, Sara Pittman, Conrad Weihl, Bjarne Udd
    • Abstract
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  • Open Access
    DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1
    Cécilia Légaré, Gayle Overend, Simon-Pierre Guay, Darren G. Monckton, Jean Mathieu, Cynthia Gagnon, Luigi Bouchard
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
    Jineesh Thottath, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Manu Manamel, Archana Singh, V. Raman Rajendran, Sridhar Sivasubbu, Vinod Scaria
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  • Open Access
    X-linked myotubular myopathy and recurrent spontaneous pneumothoraxA new phenotype?
    Per-Ole Carstens, Eva Maria Christina Schwaibold, Katharina Schregel, Carolin D. Obermaier, Arne Wrede, Sabrina Zechel, Silke Pauli, Jens Schmidt
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  • Open Access
    First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
    Chiara La Morgia, Leonardo Caporali, Francesca Tagliavini, Flavia Palombo, Michele Carbonelli, Rocco Liguori, Piero Barboni, Valerio Carelli
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  • Open Access
    Double somatic mosaicism in a child with Dravet syndrome
    Alison M. Muir, Chontelle King, Amy L. Schneider, Aman S. Buttar, Ingrid E. Scheffer, Lynette G. Sadleir, Heather C. Mefford
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