1. Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice

   • Daniele Galatolo
   • Rosanna Trovato
   • Alessandra Tessa

   Review 03 May 2023 Pages: 147 - 160

   

2. Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy

   • Zhi-Jian Lin
   • Bi-Xia Huang
   • Peng-Xing Lin

   Original Article 06 April 2023 Pages: 161 - 169

   

3. A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

   • Frederike L. Harms
   • Deike Weiss
   • Kerstin Kutsche

   Original Article 11 April 2023 Pages: 171 - 180

   

4. Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene

   • Viviana Tritto
   • Federico Grilli
   • Paola Riva

   Original Article Open access 05 May 2023 Pages: 181 - 188

   

5. COLQ-related congenital myasthenic syndrome: An integrative view

   • Tina Eshaghian
   • Bahareh Rabbani
   • Nejat Mahdieh

   Original Article 25 May 2023 Pages: 189 - 200

   

6. RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication

   • Junping Jiao
   • Yuping Wang
   • Shujuan Tian

   Original Article Open access 08 June 2023 Pages: 201 - 208

   

7. PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity

   • Sophie Hebestreit
   • Janine Schwahn
   • Jochen H. Weishaupt

   Original Article Open access 21 June 2023 Pages: 209 - 213

   

8. Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30

   • Mariana Santos
   • João Massano
   • Jorge Oliveira

   Short Communication 24 May 2023 Pages: 215 - 218

   

9. Response to a letter to the editor

   • Jeanne Jury
   • Mathilde Nizon
   • Bertrand Isidor

   Letter to Editor 01 June 2023 Pages: 219 - 219