1. Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene

   • A. Afek
   • L. Tagliafierro
   • O. Chiba-Falek

   Original Article 05 May 2018 Pages: 135 - 144

   

2. Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

   • Maria Steenhof
   • Maria Kibæk
   • Jens Michael Hertz

   Original Article 12 May 2018 Pages: 145 - 149

   

3. 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 Johannsen
   • Fanny Kortüm
   • René Santer

   Original Article 28 May 2018 Pages: 151 - 156

   

4. Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause

   • Chin-An Yang
   • I-Ching Chou
   • Jan-Gowth Chang

   Original Article 30 May 2018 Pages: 157 - 163

   

5. Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes

   • Zied Landoulsi
   • Fatma Laatar
   • Eric Leguern

   Original Article 12 June 2018 Pages: 165 - 178

   

6. R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome

   • A. Catania
   • R. Battini
   • V. Tiranti

   Original Article 03 July 2018 Pages: 179 - 187

   

7. FUS(1-359) transgenic mice as a model of ALS: pathophysiological and molecular aspects of the proteinopathy

   • Sergei Y. Funikov
   • Alexander P. Rezvykh
   • Aleksey A. Ustyugov

   Original Article 07 July 2018 Pages: 189 - 204

   

8. Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

   • R. C. Caylor
   • L. Grote
   • C. J. Saunders

   Original Article 20 June 2018 Pages: 205 - 213