Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
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Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiencyPhenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyCerebral microhemorrhages: mechanisms, consequences, and prevention.The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.New information on the genetics of stroke.Von Willebrand factor inhibits mature smooth muscle gene expression through impairment of Notch signaling.Stroke Genetics Update: 2011COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephalyMolecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke PreventionCOL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.Extracellular matrix and matrix receptors in blood-brain barrier formation and stroke.ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.Stroke-related translational research.Advances in genetics 2010.Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.Basement membrane components are key players in specialized extracellular matrices.Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.Cell-matrix interactions in muscle disease.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Cerebral microbleeds: a guide to detection and clinical relevance in different disease settings.The collagenopathies: review of clinical phenotypes and molecular correlations.Monogenic causes of stroke: now and the future.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Embryo genome profiling by single-cell sequencing for successful preimplantation genetic diagnosis in a family harboring COL4A1 c.1537G>A; p.G513S mutation.Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.Migraine and stroke.Bidirectional encroachment of collagen into the tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyHANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?Basement Membrane Defects in Genetic Kidney Diseases.Neonatal stroke and haematuria: Answers.Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.Brain vascular heterogeneity: implications for disease pathogenesis and design of in vitro blood-brain barrier models.Cerebral Small Vessel Disease Clinical, Neuropsychological, and Radiological Phenotypes, Histopathological Correlates, and Described Genotypes: A Review
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P2860
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@ast
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@en
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@en-gb
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@nl
type
label
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@ast
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@en
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@en-gb
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@nl
prefLabel
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@ast
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@en
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@en-gb
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@nl
P2093
P2860
P3181
P1433
P1476
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
@en
P2093
E Plaisier
S Alamowitch
T Van Agtmael
P2860
P304
P3181
P356
10.1212/WNL.0B013E3181C3FD12
P407
P577
2009-12-01T00:00:00Z