Associated Papers
Late-onset intracerebral hemorrhage associated with COL4A1 variants: clinical and genetic perspectives.
Zhuang X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Loss of col4a1 in zebrafish recapitulates the cerebrovascular phenotypes associated with monogenic cerebral small vessel disease.
Flatman D et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
32842921 (PubMed )
Supplement: str_stroke-2020-029517_supp1.pdf
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.
Gale DP et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
Lemmens R et al.
Human Molecular Genetics, 2013
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