Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome.
Neuroscientist
2023
29
6
732-750
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.
Mov Disord
2023
38
2
355-357
Relationship of serum beta-synuclein with blood biomarkers and brain atrophy.
Alzheimers Dement
2023
19
4
1358-1371
Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight.
Mov Disord
2023
38
1
23-24
Telemedical monitoring in patients with inborn cardiac disease - experience of a tertiary care centre.
Mamm Genome
2023
34
2
323-330
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
J Neurol
2023
270
3
1501-1511
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
2023
146
4
1373-1387
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
J Neurol
2023
270
2
909-916