Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3 Megha N. MurthyCornelis BlauwendraatDaniah Trabzuni Original Article Open access 08 April 2017 Pages: 121 - 133
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene Maher Awni ShahrourMotee AshhabOrly Elpeleg Original Article 10 May 2017 Pages: 135 - 139
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation Esther Leshinsky-SilverJiqiang LingDorit Lev Original Article 15 June 2017 Pages: 141 - 146
Male patients affected by mosaic PCDH19 mutations: five new cases I. M. de LangeP. RumpE. H. Brilstra Original Article Open access 01 July 2017 Pages: 147 - 153
Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship Toyanji Joseph PunchaichiraSanjay Kumar DeyB. K. Thelma Original Article 13 July 2017 Pages: 155 - 168
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients Meng-Chang HsiaoArkadiusz PiotrowskiLudwine Messiaen Short Communication 11 March 2017 Pages: 169 - 174
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation Miryam CarecchioMarina PicilloValeria Tiranti Short Communication 29 June 2017 Pages: 175 - 178
Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot Margaret K. KingEnrico LeipoldThomas D. Challman Letter to Editor 13 March 2017 Pages: 179 - 181