Natural history of neurofibromatosis type 2 with onset before the age of 1 year Martino RuggieriAnna Lia GabrieleAldo Quattrone Original Article 03 February 2013 Pages: 89 - 98
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways Alex R. PaciorkowskiRyan N. TraylorEric D. Marsh Original Article 07 February 2013 Pages: 99 - 111
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype Heather R. TiffinZandra A. JenkinsStephen P. Robertson Original Article 02 March 2013 Pages: 113 - 121
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland Mari AuranenEmil YlikallioHenna Tyynismaa Original Article 03 March 2013 Pages: 123 - 132
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions Florence RiantMichaelle CecillonElisabeth Tournier-Lasserve Original Article 18 April 2013 Pages: 133 - 141
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings S. W. KongY. Shimizu-MotohashiL. M. Kunkel Original Article 28 April 2013 Pages: 143 - 152
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency Célia NogueiraJosé BarrosFilippo M. Santorelli Short Communication 28 March 2013 Pages: 153 - 160
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms Antonino CannasGiuseppe BorgheroMaria Giovanna Marrosu Original Article 02 April 2013 Pages: 161 - 166
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia–parkinsonism Toshitaka KawaraiPaul Matthew D. PascoRyuji Kaji Letter to the Editor 23 February 2013 Pages: 167 - 169
