Associated Papers
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
38392956 (PubMed )
Supplement: neurolint-16-00015-s001.zip › neurolint-2790730-supplementary.pdf
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
Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.
Nandeesh BN et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Labelle-Dumais C et al.
American Journal of Human Genetics, 2019
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Kuo DS et al.
Human Molecular Genetics, 2012
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
Weng YC et al.
Annals of Neurology, 2012
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
Plaisier E et al.
American Journal of Medical Genetics. Part A, 2010
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
Alamowitch S et al.
Neurology, 2009
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
Plaisier E et al.
The New England Journal of Medicine, 2007
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