Editorial
Articles
- Open AccessHACE1 deficiency leads to structural and functional neurodevelopmental defectsVanja 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
- Open AccessNovel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and choreinYuka 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
- Open AccessBrain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise trainingAlice S. Ryan, Huichun Xu, Frederick M. Ivey, Richard F. Macko, Charlene E. Hafer-Macko
- Open AccessNovel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosisYoshiaki 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
- Open AccessHTT haplogroups in Finnish patients with Huntington diseaseSusanna Ylönen, Jussi O.T. Sipilä, Marja Hietala, Kari Majamaa
- Open AccessOligogenic basis of sporadic ALSThe example of SOD1 p.Ala90Val mutationLiina 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
- Open AccessHybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial diseaseChristopher Newell, Aneal Khan, David Sinasac, John Shoffner, Marisa W. Friederich, Johan L.K. Van Hove, Stacey Hume, Jane Shearer, Iveta Sosova
- Open AccessNovel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progressionAnna Vihola, Johanna Palmio, Olof Danielsson, Sini Penttilä, Daniel Louiselle, Sara Pittman, Conrad Weihl, Bjarne Udd
- Open AccessDMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1Cécilia Légaré, Gayle Overend, Simon-Pierre Guay, Darren G. Monckton, Jean Mathieu, Cynthia Gagnon, Luigi Bouchard
Clinical/Scientific Notes
- Open AccessA novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosisJineesh Thottath, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Manu Manamel, Archana Singh, V. Raman Rajendran, Sridhar Sivasubbu, Vinod Scaria
- Open AccessX-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
- Open AccessFirst TMEM126A missense mutation in an Italian proband with optic atrophy and deafnessChiara La Morgia, Leonardo Caporali, Francesca Tagliavini, Flavia Palombo, Michele Carbonelli, Rocco Liguori, Piero Barboni, Valerio Carelli
- Open AccessDouble somatic mosaicism in a child with Dravet syndromeAlison M. Muir, Chontelle King, Amy L. Schneider, Aman S. Buttar, Ingrid E. Scheffer, Lynette G. Sadleir, Heather C. Mefford
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