Issue 2/2017
Content (6 Articles)
Recurrent KIF2A mutations are responsible for classic lissencephaly
Mara Cavallin, Emilia K. Bijlsma, Adrienne El Morjani, Sébastien Moutton, Els A. J. Peeters, Camille Maillard, Jean Michel Pedespan, Anne-Marie Guerrot, Valérie Drouin-Garaud, Christine Coubes, David Genevieve, Christine Bole-Feysot, Cecile Fourrage, Julie Steffann, Nadia Bahi-Buisson
Analysis of gene expression in the nervous system identifies key genes and novel candidates for health and disease
Sarah M Carpanini, Thomas M Wishart, Thomas H Gillingwater, Jean C Manson, Kim M Summers
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
Roberta La Piana, Woranontee Weraarpachai, Luis H. Ospina, Martine Tetreault, Jacek Majewski, G. Bruce Pike, Jean-Claude Decarie, Donatella Tampieri, Bernard Brais, Eric A. Shoubridge
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum
Huma Tariq, Sadaf Naz
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia
Andrew G. L. Douglas, Gaia Andreoletti, Kevin Talbot, Simon R. Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C. Foulds
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
Maher Awni Shahrour, Claudia M. Nicolae, Simon Edvardson, Motee Ashhab, Adri M. Galvan, Daniel Constantin, Bassam Abu-Libdeh, George-Lucian Moldovan, Orly Elpeleg