Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice Daniele GalatoloRosanna TrovatoAlessandra Tessa Review 03 May 2023 Pages: 147 - 160
Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy Zhi-Jian LinBi-Xia HuangPeng-Xing Lin Original Article 06 April 2023 Pages: 161 - 169
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. HarmsDeike WeissKerstin Kutsche Original Article 11 April 2023 Pages: 171 - 180
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene Viviana TrittoFederico GrilliPaola Riva Original Article Open access 05 May 2023 Pages: 181 - 188
COLQ-related congenital myasthenic syndrome: An integrative view Tina EshaghianBahareh RabbaniNejat Mahdieh Original Article 25 May 2023 Pages: 189 - 200
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication Junping JiaoYuping WangShujuan Tian Original Article Open access 08 June 2023 Pages: 201 - 208
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity Sophie HebestreitJanine SchwahnJochen H. Weishaupt Original Article Open access 21 June 2023 Pages: 209 - 213
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30 Mariana SantosJoão MassanoJorge Oliveira Short Communication 24 May 2023 Pages: 215 - 218
Response to a letter to the editor Jeanne JuryMathilde NizonBertrand Isidor Letter to Editor 01 June 2023 Pages: 219 - 219