Articles
- Open AccessTruncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire 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
- Open AccessACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian 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
- Open AccessRare ABCA7 variants in 2 German families with Alzheimer diseasePatrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R. Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G. Schneider, Matthias Riemenschneider
- Open AccessDiagnostic odyssey of patients with mitochondrial diseaseResults of a surveyJohnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L.P. Thompson
- Open AccessAtaxia-telangiectasiaA new remitting form with a peculiar transcriptome signatureVincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani
Clinical/Scientific Notes
- Open AccessACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegiaCecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart
- Open AccessTwenty-year-old African American woman with prion disease associated with the G114V PRNP variantJason Margolesky, Mario Saporta
- Open AccessWhole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndromeHadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller
- Open AccessWDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotypeLeonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger
- Open AccessMutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variabilityElsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl
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