Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene A. AfekL. TagliafierroO. Chiba-Falek Original Article 05 May 2018 Pages: 135 - 144
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia Maria SteenhofMaria KibækJens Michael Hertz Original Article 12 May 2018 Pages: 145 - 149
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay Jessika JohannsenFanny KortümRené Santer Original Article 28 May 2018 Pages: 151 - 156
Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause Chin-An YangI-Ching ChouJan-Gowth Chang Original Article 30 May 2018 Pages: 157 - 163
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes Zied LandoulsiFatma LaatarEric Leguern Original Article 12 June 2018 Pages: 165 - 178
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome A. CataniaR. BattiniV. Tiranti Original Article 03 July 2018 Pages: 179 - 187
FUS(1-359) transgenic mice as a model of ALS: pathophysiological and molecular aspects of the proteinopathy Sergei Y. FunikovAlexander P. RezvykhAleksey A. Ustyugov Original Article 07 July 2018 Pages: 189 - 204
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings R. C. CaylorL. GroteC. J. Saunders Original Article 20 June 2018 Pages: 205 - 213