Refractory cerebral infarction in a child with an ACTA2 mutation
Tài liệu tham khảo
Amlie-Lefond, 2009, Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the international pediatric stroke study, Circulation, 119, 1417, 10.1161/CIRCULATIONAHA.108.806307
Lu, 2016, Severe molecular defects exhibited by the R179H mutation in human vascular smooth muscle alpha-actin, J Biol Chem, 291, 21729, 10.1074/jbc.M116.744011
Regalado, 2018, Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations, Genet Med, 20, 1206, 10.1038/gim.2017.245
Chen, 2019, Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature, WJCC, 7, 4355, 10.12998/wjcc.v7.i24.4355
Mc Glacken-Byrne, 2020, High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report, BMC Ophthalmol, 20, 10.1186/s12886-020-01344-w
Milewicz, 2010, De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction, Am J Med Genet A, 152A, 2437, 10.1002/ajmg.a.33657
Munot, 2012, A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations, Brain, 135, 2506, 10.1093/brain/aws172
D'Arco, 2018, Expanding the distinctive neuroimaging phenotype of ACTA2 mutations, AJNR Am J Neuroradiol, 39, 2126, 10.3174/ajnr.A5823
Moosa, 2013, Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation, J Child Neurol, 28, 531, 10.1177/0883073812446631
Rutledge, 2016, Indirect and direct revascularization of ACTA2 cerebral arteriopathy: feasibility of the superficial temporal artery to anterior cerebral artery bypass with posterior auricular artery interposition graft: case report, PED, 18, 339, 10.3171/2016.3.PEDS15694
Amans, 2014, Cerebral arteriopathy associated with Arg179His ACTA2 mutation, J Neurointerv Surg, 6, 10.1136/neurintsurg-2013-010997.rep
Galyfos, 2017, Cilostazol for secondary prevention of stroke: should the guidelines perhaps be extended?, Vasc Specialist Int, 33, 89, 10.5758/vsi.2017.33.3.89
Zhang, 2015, Effects of cilostazol on the progression and regression of symptomatic intracranial artery stenosis: it reduces the risk of ischemic stroke, Neural Regen Res, 10, 667, 10.4103/1673-5374.155443
Shinohara, 2010, Cilostazol for prevention of secondary stroke (CSPS 2): an aspirin-controlled, double-blind, randomised non-inferiority trial, Lancet Neurol, 9, 959, 10.1016/S1474-4422(10)70198-8
Nepal, 2019, Association between Lys198Asn polymorphism of endothelin-1 gene and ischemic stroke: A meta-analysis, Brain Behav, 9, 10.1002/brb3.1424
