Developing the field of neurogenetics Ulrich MüllerGeorg AuburgerLouis J. Ptacek Editorial 21 November 2017 Pages: 183 - 184
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 Noriko MiyakeNicole I. WolfAdeline Vanderver Original Article Open access 26 August 2017 Pages: 185 - 194
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing Michael ZechRobert JechJuliane Winkelmann Original Article 28 August 2017 Pages: 195 - 205
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions Jovan PešovićS. PerićDušanka Savić-Pavićević Original Article 23 September 2017 Pages: 207 - 218
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia Lorenzo MaggiSabrina RavagliaMassimiliano Filosto Original Article 09 October 2017 Pages: 219 - 225
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits Ruth I. C. GlasgowKyle ThompsonRobert W. Taylor Original Article Open access 26 October 2017 Pages: 227 - 235
GNE missense mutation in recessive familial amyotrophic lateral sclerosis Çiğdem KöroğluRezzak YılmazÖzden Şener Original Article 31 October 2017 Pages: 237 - 243
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation Paula SanchoAna Sánchez-MonteagudoVincenzo Lupo Short Communication 03 October 2017 Pages: 245 - 250