Ausgabe 3/2023
Inhalt (9 Artikel)
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Giovanna De Michele, Melissa Barghigiani, Ettore Cioffi, Alessandro Filla, Giusi Bilancieri, Carlo Casali, Filippo M. Santorelli, Gabriella Silvestri, Alessandra Tessa
Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy
Zhi-Jian Lin, Bi-Xia Huang, Li-Fang Su, Sheng-Yin Zhu, Jun-Wei He, Guo-Zhang Chen, Peng-Xing Lin
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, Jasmin Lisfeld, Malik Alawi, Kerstin Kutsche
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, Donatella Milani, Paola Riva
COLQ-related congenital myasthenic syndrome: An integrative view
Tina Eshaghian, Bahareh Rabbani, Reza Shervin Badv, Sahar Mikaeeli, Behdad Gharib, Stanley Iyadurai, Nejat Mahdieh
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity
Sophie Hebestreit, Janine Schwahn, Vesile Sandikci, Mate E. Maros, Ivan Valkadinov, Rüstem Yilmaz, Lukas Eckrich, Seyed Babak Loghmani, Hendrik Lesch, Julian Conrad, Holger Wenz, Anne Ebert, David Brenner, Jochen H. Weishaupt
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30
Mariana Santos, João Massano, Alexandra Manuel Lopes, Ana Filipa Brandão, João Parente Freixo, Jorge Oliveira
Response to a letter to the editor
Jeanne Jury, Mathilde Nizon, Benjamin Cogné, Bertrand Isidor