Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference26 articles.
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1. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3;eBioMedicine;2024-09
2. Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance;Molecular Biology Reports;2024-06-01
3. Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL;Journal of Clinical Investigation;2024-02-22
4. Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature;Pediatric Neurology;2023-11
5. Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years;Stroke;2022-06
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