1. Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia

   • M. Juhosová
   • J. Chandoga
   • J. Štofko

   Original Article 19 November 2022 Pages: 1 - 16

   

2. Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients

   • Miral M. Refeat
   • Walaa El Naggar
   • Ayman Kilany

   Original Article Open access 26 November 2022 Pages: 17 - 28

   

3. Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior

   • Clemens Falker-Gieske
   • Jörn Bennewitz
   • Jens Tetens

   Original Article Open access 30 November 2022 Pages: 29 - 41

   

4. Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India

   • ‬Saraswati Nashi
   • Kiran Polavarapu
   • Atchayaram Nalini

   Original Article 29 December 2022 Pages: 43 - 53

   

5. A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia

   • Misbahuddin M. Rafeeq
   • Muhammad Umair
   • Raja Hussain Ali

   Short Communication 03 October 2022 Pages: 55 - 60

   

6. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia

   • Tal Gilboa
   • Naama Elefant
   • Nuphar Hacohen

   Short Communication 29 November 2022 Pages: 61 - 66