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Titel:

Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.

Dokumenttyp:
Article; Journal Article
Autor(en):
Härtl, Johanna; Hartberger, Julia; Wunderlich, Silke; Cordts, Isabell; Bafligil, Cemsel; Sturm, Marc; Westphal, Dominik; Haack, Tobias; Hemmer, Bernhard; Ikenberg, Benno David; Deschauer, Marcus
Abstract:
BACKGROUND: Genetic variants are considered to have a crucial impact on the occurrence of ischemic stroke. In clinical routine, the diagnostic value of next-generation sequencing (NGS) in the medical clarification of acute juvenile stroke has not been investigated so far. MATERIAL AND METHODS: We analyzed an exome-based gene panel of 349 genes in 172 clinically well-characterized patients with magnetic resonance imaging (MRI)-proven, juvenile (age ≤ 55 years), ischemic stroke admitted to a singl...     »
Zeitschriftentitel:
J Neurol
Jahr:
2023
Band / Volume:
270
Heft / Issue:
3
Seitenangaben Beitrag:
1501-1511
Volltext / DOI:
doi:10.1007/s00415-022-11401-7
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36411388
Print-ISSN:
0340-5354
TUM Einrichtung:
183; Institut für Humangenetik (Prof. Winkelmann); Klinik und Poliklinik für Innere Medizin I, Kardiologie (Prof. Laugwitz); Klinik und Poliklinik für Neurologie (Prof. Hemmer)
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