Genetic modifiers in Huntington’s disease: fiction or fact? Larissa ArningJörg T. Epplen Editorial 11 June 2013 Pages: 171 - 172
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset Eliana Marisa RamosJeanne C. LatourelleMarcy E. MacDonald Original Article Open access 04 May 2013 Pages: 173 - 179
Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort G. YoonB. BaskinP. N. Ray Original Article 04 June 2013 Pages: 181 - 188
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman I. BorgulováR. MazanecP. Seeman Original Article 04 August 2013 Pages: 189 - 195
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature Birgitte BertelsenNanette Mol DebesZeynep Tümer Original Article 29 August 2013 Pages: 197 - 203
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy Tobias GeisKlaus MarquardMarkus Blankenburg Original Article 20 September 2013 Pages: 205 - 213
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria Stéphanie ValenceKarine PoirierNadia Bahi-Buisson Original Article 27 September 2013 Pages: 215 - 224
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood Chihiro OhbaHitoshi OsakaHirotomo Saitsu Original Article 04 October 2013 Pages: 225 - 232
Neuroligin modulates the locomotory dopaminergic and serotonergic neuronal pathways of C. elegans Patricia G. IzquierdoFernando CalahorroManuel Ruiz-Rubio Original Article 08 October 2013 Pages: 233 - 242
A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome Ranad ShaheenEissa FaqeihFowzan S. Alkuraya Short Communication 23 July 2013 Pages: 243 - 245
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3 Ginevra ZanniChiara ScottonWang Wei Short Communication 24 August 2013 Pages: 247 - 250
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome Axel WeberAngelika KöhlerUlrich Müller Short Communication 08 October 2013 Pages: 251 - 253
Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation L. Di VitoD. de BiaseV. Donadio Letter to the Editor 16 August 2013 Pages: 255 - 256
The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together Anna DuarriEsther NibbelingDineke S. Verbeek Letter to the Editor 21 August 2013 Pages: 257 - 258