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
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
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
Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2015
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Kuo DS et al.
Human Molecular Genetics, 2012
COL4A1 mutation in a pediatric patient presenting with post-ictal hemiparesis.
Leung M et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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
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
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.
van der Knaap MS et al.
Annals of Neurology, 2006