Articles

• Open Access

  Milder forms of muscular dystrophy associated with POMGNT2 mutations

  Yukari Endo, Mingrui Dong, Satoru Noguchi, Megumu Ogawa, Yukiko K. Hayashi, Satoshi Kuru, Kenji Sugiyama, Shigehiro Nagai, Shiro Ozasa, Ikuya Nonaka, Ichizo Nishino

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  Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing

  Rumiko Izumi, Tetsuya Niihori, Toshiaki Takahashi, Naoki Suzuki, Maki Tateyama, Chigusa Watanabe, Kazuma Sugie, Hirotaka Nakanishi, Gen Sobue, Masaaki Kato, Hitoshi Warita, Yoko Aoki, Masashi Aoki

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  Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation

  Mika H. Martikainen, Markku Päivärinta, Marja Hietala, Valtteri Kaasinen

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  Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

  Gudrun Schottmann, Dominik Seelow, Franziska Seifert, Susanne Morales-Gonzalez, Esther Gill, Katja von Au, Arpad von Moers, Werner Stenzel, Markus Schuelke

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  Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

  Jeremy M. Sullivan, Christina M. Zimanyi, William Aisenberg, Breanne Bears, Dong-Hui Chen, John W. Day, Thomas D. Bird, Carly E. Siskind, Rachelle Gaudet, Charlotte J. Sumner

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  Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies

  Christine Shieh, Franklin Moser, John M. Graham, Valerie Watiker, Tyler Mark Pierson

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  Novel GABRG2 mutations cause familial febrile seizures

  Morgane Boillot, Mélanie Morin-Brureau, Fabienne Picard, Sarah Weckhuysen, Virginie Lambrecq, Carlo Minetti, Pasquale Striano, Federico Zara, Michele Iacomino, Saeko Ishida, Isabelle An-Gourfinkel, Mailys Daniau, Katia Hardies, Michel Baulac, Olivier Dulac, Eric Leguern, Rima Nabbout, Stéphanie Baulac

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