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 Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B et al.
Neurology. Genetics, 2022
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Rare and Common Variants in COL4A1 in Chinese Patients With Intracerebral Hemorrhage.
Liu X et al.
Frontiers in Neurology, 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
Migraine and neurogenetic disorders.
Sathe S
Current Pain and Headache Reports, 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
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
Labelle-Dumais C et al.
Plos Genetics, 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
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
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Gould DB et al.
The New England Journal of Medicine, 2006