Ausgabe 1/2020
Inhalt (6 Artikel)
Customized multigene panels in epilepsy: the best things come in small packages
Simona Pellacani, Claudia Dosi, Giulia Valvo, Francesca Moro, Serena Mero, Federico Sicca, Filippo Maria Santorelli
Infectious stress triggers a POLG-related mitochondrial disease
Paula Gaudó, Sonia Emperador, Nuria Garrido-Pérez, Eduardo Ruiz-Pesini, Delia Yubero, Angels García-Cazorla, Rafael Artuch, Julio Montoya, María Pilar Bayona-Bafaluy
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion
Andoni Echaniz-Laguna, Jean-Marie Cuisset, Lucie Guyant-Marechal, Patrick Aubourg, Laurent Kremer, Naziha Baaloul, Alain Verloes, Kouider Beladgham, Jimmy Perrot, Bruno Francou, Philippe Latour
A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family
Liyan Huang, Wei Li, Yi Li, Chaoyuan Song, Pin Wang, Hongchun Wang, Xiulian Sun
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
R. Palvadeau, Z. E. Kaya-Güleç, G. Şimşir, A. Vural, Ö. Öztop-Çakmak, G. Genç, M. S. Aygün, O. Falay, A. Nazlı Başak, S. Ertan
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication
Thomas Smol, Caroline Thuillier, Elise Boudry-Labis, Anne Dieux-Coeslier, Bénédicte Duban-Bedu, Roseline Caumes, Sonia Bouquillon, Sylvie Manouvrier-Hanu, Catherine Roche-Lestienne, Jamal Ghoumid