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
  • Full Text
  • Full Text (PDF)
• 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
  • Full Text
  • Full Text (PDF)
• 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
  • Full Text
  • Full Text (PDF)
• 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
  • Full Text (PDF)
• Open Access

  HTT haplogroups in Finnish patients with Huntington disease

  Susanna Ylönen, Jussi O.T. Sipilä, Marja Hietala, Kari Majamaa

  • Abstract
  • Full Text
  • Full Text (PDF)
• 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
  • Full Text (PDF)
• 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
  • Full Text (PDF)
• 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
  • Full Text
  • Full Text (PDF)
• 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
  • Full Text
  • Full Text (PDF)