NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine,Neurology (clinical),Rehabilitation,Surgery
Reference22 articles.
1. CADASIL: migraine, encephalopathy, stroke and their inter-relationships;Tan;PLoS One.,2016
2. Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3;Meng;PLoS One,2012
3. CADASIL: ultrastructural insights into the morphology of granular osmiophilic material;Lorenzi;Brain Behav,2017
4. Systematic review of cysteine-sparing NOTCH3 missense mutations in patients with clinical suspicion of CADASIL;Muiño;Int J Mol Sci,2017
5. Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL;Rutten;Ann ClinTransl Neurol,2016
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1. Patient with CADASIL – a diagnostic challenge;Annales Academiae Medicae Silesiensis;2023-09-13
2. Notch3 Mutation Detection in Stroke Patients and Selective Nanoliposome in Stroke Alleviation in a Mouse Model;Journal of Biomedical Nanotechnology;2021-09-01
3. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection;American Journal of Medical Genetics Part A;2020-12-11
4. Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL;Folia Neuropathologica;2020
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