Intracerebral hemorrhage as the sole manifestation of COL4A1/A2 duplications
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-022-06463-4.pdf
Reference5 articles.
1. Zagaglia S et al (2018) Neurologic phenotypes associated with COL4A1/2 mutations. Neurology 91:e1–e11
2. Kuuluvainen S, Mönkäre H, Kokkonen F, Zhao A, Verkkoniemi-Ahola J, Schleutker AH, Hakonen P, Hartikainen M, P¨oyh¨onen, L. Myllykangas, (2021) COL4A1 and COL4A2 duplication causes cerebral small vessel disease with recurrent early onset ischemic strokes. Stroke 52:e624–e625
3. Whittaker E, Thrippleton S, Chong LYW, Collins VG, Ferguson AC, Henshall DE, Lancastle E, Wilkinson T, Wilson B, Wilson K, Sudlow C, Wardlaw J, Rannikmäe K (2022) Systematic review of cerebral phenotypes associated with monogenic cerebral small-vessel disease. J Am Heart Assoc. 11(12):e025629
4. Guey S, Hervé D (2022) Main features of COL4A1-COL4A2 related cerebral microangiopathies. Cerebral Circ-Cognit Behav 3:100–140
5. Saskin A, Sillon G, Palfreeman N, Buhas D (2018) COL4A1/2 CNVs and cerebral small vessel disease: narrowing in on the critical chromosomal region. Neurology 90:1026–1028
Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review;Neurology International;2024-02-01
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