A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
about
Moyamoya Biomarkersα-Smooth Muscle Actin and ACTA2 Gene Expressions in VasculopathiesMoyamoya disease and syndromes: from genetics to clinical managementStroke Risk Factors, Genetics, and Prevention.Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.RNF213 rare variants in an ethnically diverse population with Moyamoya disease.Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.Cerebral arteriopathy associated with Arg179His ACTA2 mutation.Recent advances in moyamoya disease: pathophysiology and treatment.Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth MuscleDisrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin.Large-scale identification of human cerebrovascular proteins: Inter-tissue and intracerebral vascular protein diversity.Neural Vascular Mechanism for the Cerebral Blood Flow Autoregulation after Hemorrhagic Stroke.Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome.Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11.Acute aortic dissections with pregnancy in women with ACTA2 mutations.Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.Moyamoya: defining current knowledge gaps"Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report
P2860
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P2860
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
A novel distinctive cerebrovas ...... ozygous Arg179 ACTA2 mutations
@ast
A novel distinctive cerebrovas ...... ozygous Arg179 ACTA2 mutations
@en
type
label
A novel distinctive cerebrovas ...... ozygous Arg179 ACTA2 mutations
@ast
A novel distinctive cerebrovas ...... ozygous Arg179 ACTA2 mutations
@en
prefLabel
A novel distinctive cerebrovas ...... ozygous Arg179 ACTA2 mutations
@ast
A novel distinctive cerebrovas ...... ozygous Arg179 ACTA2 mutations
@en
P2093
P2860
P356
P1433
P1476
A novel distinctive cerebrovas ...... ozygous Arg179 ACTA2 mutations
@en
P2093
Christopher Rittey
Dawn E Saunders
Dianna M Milewicz
Ellen S Regalado
John R Ostergaard
Kees P Braun
Klaske D Lichtenbelt
Pinki Munot
Sunny Philip
Thomas S Jacques
P2860
P304
P356
10.1093/BRAIN/AWS172
P407
P577
2012-07-24T00:00:00Z