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
Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.
Cronbach N et al.
Pharmaceuticals (basel, Switzerland), 2025
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL et al.
Bmj Open Ophthalmology, 2022
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
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
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S et al.
Neurology, 2018
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Rødahl E et al.
American Journal of Ophthalmology, 2013
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
Genetics of anterior segment dysgenesis disorders.
Reis LM et al.
Current Opinion in Ophthalmology, 2011
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Ophthalmological features associated with COL4A1 mutations.
Coupry I et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.
Volonghi I et al.
Current Medicinal Chemistry, 2010
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
Alamowitch S et al.
Neurology, 2009
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
Sibon I et al.
Annals of Neurology, 2007