1. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Issue 11 (2nd November 2012) Authors: Sharma, Manu; Ioannidis, John P A; Aasly, Jan O; Annesi, Grazia; Brice, Alexis; Bertram, Lars; Bozi, Maria; Barcikowska, Maria; Crosiers, David; Clarke, Carl E; Facheris, Maurizio F; Farrer, Matthew; Garraux, Gaetan; Gispert, Suzana; Auburger, Georg; Vilariño-Güell, Carles; Hadjigeorgiou, Georgio... Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Issue 4 (12th April 2012) Authors: Haack, Tobias B; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A; Herberg, Ulrike; Hennermann, Julia B; Klopstock, Thomas; Kuhn, Klaus A; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, ... Journal: Journal of medical genetics Issue: Volume 49:Issue 4(2012) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗