Splice variants of the Alzheimer’s disease beta-secretase, BACE1 R. M. Damian HolsingerNelleke GoensePadraig Strappe Review article 11 November 2012 Pages: 1 - 9
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification Sandy Chan HsuRenee L. SearsGiovanni Coppola Original Article 20 January 2013 Pages: 11 - 22
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders J. J. T. van HarsselS. WeckhuysenE. H. Brilstra Original Article 20 January 2013 Pages: 23 - 34
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2 B.-O. ChoiM.-H. ParkS. K. Koo Original Article 10 November 2012 Pages: 35 - 42
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations Cathryn PoultonRenske OegemaGrazia M. S. Mancini Original Article 09 December 2012 Pages: 43 - 51
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases Larissa ArningJörg T. EpplenAnne-Dorte Sperfeld Short Communication 06 November 2012 Pages: 53 - 61
Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y Mohammed YusufKay LeungEmanuela V. Volpi Short Communication Open access 09 December 2012 Pages: 63 - 70
Refining the phenotype associated with MEF2C point mutations Thierry BienvenuBertrand DieboldBertrand Isidor Short Communication 23 September 2012 Pages: 71 - 75
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype Carlo C. QuattrocchiGinevra ZanniBruno Bernardi Original Article 30 December 2012 Pages: 77 - 83
Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis Dennis LalKerstin BeckerAndreas Hahn Letter to the Editors 20 January 2013 Pages: 85 - 87