Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family Shelisa TeyNortina ShahrizailaAzlina Ahmad-Annuar Original Article 22 April 2019 Pages: 117 - 127
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity David B. BeckT. SubramanianG. Chinnadurai Original Article 30 April 2019 Pages: 129 - 143
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression Maria Teresa BonatiChiara CastronovoPalma Finelli Original Article 17 June 2019 Pages: 145 - 154
A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus Miaomiao WangXinqing Zhang Short Communication Open access 16 May 2019 Pages: 155 - 160
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12 Jessica RossiFrancesco CavallieriStefano Meletti Short Communication 13 June 2019 Pages: 161 - 164
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings Marcello ScalaGiorgia BrigatiF. M. Santorelli Short Communication 02 July 2019 Pages: 165 - 172