Associated Papers
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
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Kuo DS et al.
Human Molecular Genetics, 2012
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
Livingston J et al.
Neuropediatrics, 2011
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