Articles

• Open Access

  Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

  Claire G. Salter, Danique Beijer, Holly Hardy, Katy E.S. Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A. Russell, Meriel M. McEntagart, Barry A. Chioza, Randy D. Blakely, John K. Chilton, Jan De Bleecker, Jonathan Baets, Emma L. Baple, David Walk, Andrew H. Crosby

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  ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

  Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner

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  Rare ABCA7 variants in 2 German families with Alzheimer disease

  Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider

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  Diagnostic odyssey of patients with mitochondrial diseaseResults of a survey

  Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L.P. Thompson

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  Ataxia-telangiectasiaA new remitting form with a peculiar transcriptome signature

  Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani

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