연구동향 분석

Genetics of Cerebral Small Vessel Disease

Jay Chol Choi 2015년

논문상세정보
인용/피인용
' Genetics of Cerebral Small Vessel Disease' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 내과학
  • cadasil
  • cerebralsmallvesseldiseases
  • fabry disease
  • geneticassociationstudy
  • genome-wide association study
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
1,332 1

0.0%

' Genetics of Cerebral Small Vessel Disease' 의 참고문헌

  • Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis
    Dong Y Stroke 34 : 203 ~ 205 [2003]
  • Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the American heart association/American stroke association
    Gorelick PB Stroke 42 : 2672 ~ 2713 [2011]
  • Variants at APOE influence risk of deep and lobar intracerebral hemorrhage
    Biffi A Ann Neurol 68 : 934 ~ 943 [2010]
  • Two novel HTRA1 mutations in a European CARASIL patient
    Bianchi S Neurology 82 : 898 ~ 900 [2014]
  • The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland
    Razvi SS J Neurol Neurosurg Psychiatry 76 : 739 ~ 741 [2005]
  • The phenotypic spectrum of CADASIL: clinical findings in 102 cases
    Dichgans M Ann Neurol 44 : 731 ~ 739 [1998]
  • The natural history of CADASIL: a pooled analysis of previously published cases
    Desmond DW Stroke 30 : 1230 ~ 1233 [1999]
  • The influence of genetic and cardiovascular risk factors on the CADASIL phenotype
    Singhal S Brain 127 : 2031 ~ 2038 [2004]
  • The genetics of primary haemorrhagic stroke, subarachnoid haemorrhage and ruptured intracranial aneurysms in adults
    Peck G PLoS One 3 : e3691 ~ [2008]
  • The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
    Joutel A J Clin Invest 105 : 597 ~ 605 [2000]
  • The 1425G/A SNP in PRKCH is associated with ischemic stroke and cerebral hemorrhage in a Chinese population
    Wu L Stroke 40 : 2973 ~ 2976 [2009]
  • Systematic review of methods and results of studies of the genetic epidemiology of ischemic stroke
    Flossmann E Stroke 35 : 212 ~ 227 [2004]
  • Secular trends in the incidence of and risk factors for ischemic stroke and its subtypes in Japanese population
    Kubo M Circulation 118 : 2672 ~ 2678 [2008]
  • Secular trends in ischemic stroke characteristics in a rapidly developed country: results from the Korean Stroke Registry Study (secular trends in Korean stroke)
    Jung KH Circ Cardiovasc Qual Outcomes 5 : 327 ~ 334 [2012]
  • Role of COL4A1 in small-vessel disease and hemorrhagic stroke
    Gould DB N Engl J Med 354 : 1489 ~ 1496 [2006]
  • Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL
    Feuerhake F Acta Neuropathol 103 : 188 ~ 192 [2002]
  • Recommendations From the International Stroke Genetics Consortium, Part 2: Biological Sample Collection and Storage
    Battey TW Stroke 46 : 285 ~ 290 [2015]
  • Recommendations From the International Stroke Genetics Consortium, Part 1: Standardized Phenotypic Data Collection
    Majersik JJ Stroke 46 : 279 ~ 284 [2015]
  • Quantitative analysis of cerebral vasculopathy in patients with Fabry disease
    Crutchfield KE Neurology 50 : 1746 ~ 1749 [1998]
  • Psychiatric disturbances in CADASIL: a brief review
    Valenti R Acta Neurol Scand 118 : 291 ~ 295 [2008]
  • Prevalence of lysosomal storage disorders
    Meikle PJ JAMA 281 : 249 ~ 254 [1999]
  • Prevalence of Fabry disease in stroke patients--a systematic review and meta-analysis
    Shi Q J Stroke Cerebrovasc Dis 23 : 985 ~ 992 [2014]
  • Predicting stroke through genetic risk functions: the CHARGE Risk Score Project
    Ibrahim-Verbaas CA Stroke 45 : 403 ~ 412 [2014]
  • Patterns of MRI lesions in CADASIL
    Chabriat H Neurology 51 : 452 ~ 457 [1998]
  • Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    Joutel A Nature 383 : 707 ~ 710 [1996]
  • Notch signaling: cell fate control and signal integration in development
    Artavanis-Tsakonas S Science 284 : 770 ~ 776 [1999]
  • Notch signaling in vascular morphogenesis
    Alva JA Curr Opin Hematol 11 : 278 ~ 283 [2004]
  • Nonhypertensive cerebral small-vessel disease. An autopsy study
    Lammie GA Stroke 28 : 2222 ~ 2229 [1997]
  • Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus
    Crow YJ Nat Genet 38 : 917 ~ 920 [2006]
  • Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
    Gould DB Science 308 : 1167 ~ 1171 [2005]
  • Multilocus genetic risk score associates with ischemic stroke in case-control and prospective cohort studies
    Malik R Stroke 45 : 394 ~ 402 [2014]
  • Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage
    Woo D Am J Hum Genet 94 : 511 ~ 521 [2014]
  • Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging
    Wardlaw JM Lancet Neurol 12 : 483 ~ 497 [2013]
  • MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL
    O’Sullivan M Neurology 56 : 628 ~ 634 [2001]
  • Loss of venous integrity in cerebral small vessel disease: a 7-T MRI study in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    De Guio F Stroke 45 : 2124 ~ 2126 [2014]
  • Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34by in situ hybridization
    Emanuel BS Am J Hum Genet 38 : 38 ~ 44 [1986]
  • Ischemic stroke subtypes: a population-based study of incidence and risk factors
    Petty GW Stroke 30 : 2513 ~ 2516 [1999]
  • Ischemic stroke subtypes in a Japanese population: Takashima Stroke Registry, 1988-2004
    Turin TC Stroke 41 : 1871 ~ 1876 [2010]
  • Ischemic stroke subtypes in Pakistan: the Aga Khan University Stroke Data Bank
    Syed NA J Pak Med Assoc 53 : 584 ~ 588 [2003]
  • Ischemic stroke subtype incidence among whites, blacks, and Hispanics: the Northern Manhattan study
    White H Circulation 111 : 1327 ~ 1331 [2005]
  • Ischemic stroke as a complex genetic disorder
    Meschia JF. Semin Neurol 26 : 49 ~ 56 [2006]
  • Intracerebral haemorrhage
    Qureshi AI Lancet 373 : 1632 ~ 1644 [2009]
  • Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease
    Moore DF AJNR Am J Neuroradiol 24 : 1096 ~ 1101 [2003]
  • Incidence rates of first-ever ischemic stroke subtypes among blacks: a population-based study
    Woo D Stroke 30 : 2517 ~ 2522 [1999]
  • How to interpret a genome-wide association study
    Pearson TA JAMA 299 : 1335 ~ 1344 [2008]
  • Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3
    Ophoff RA Am J Hum Genet 69 : 447 ~ 453 [2001]
  • Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
    Jen J Neurology 49 : 1322 ~ 1330 [1997]
  • Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium
    Fornage M Ann Neurol 69 : 928 ~ 939 [2011]
  • Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium
    Debette S Stroke 41 : 210 ~ 217 [2010]
  • Genetic variation in white matter hyperintensity volume in the Framingham Study
    Atwood LD Stroke 35 : 1609 ~ 1613 [2004]
  • Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease
    Schmidt H Brain 134 : 3384 ~ 3397 [2011]
  • Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies
    Traylor M Lancet Neurol 11 : 951 ~ 962 [2012]
  • Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations
    Bevan S Stroke 43 : 3161 ~ 3167 [2012]
  • Genetic determinants of white matter hyperintensities on brain scans: a systematic assessment of 19 candidate gene polymorphisms in 46 studies in 19,000 subjects
    Paternoster L Stroke 40 : 2020 ~ 2026 [2009]
  • Genetic associations with brain microbleeds: systematic review and meta-analyses
    Maxwell SS Neurology 77 : 158 ~ 167 [2011]
  • Genetic and environmental risk factors for intracerebral hemorrhage: preliminary results of a population-based study
    Woo D Stroke 33 : 1190 ~ 1195 [2002]
  • Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
    Nozaki H Stroke 45 : 3447 ~ 3457 [2014]
  • Family history of stroke in stroke types and subtypes
    Polychronopoulos P J Neurol Sci 195 : 117 ~ 122 [2002]
  • Fabry disease--a diagnostic and therapeutic challenge
    Houge G Tidsskr Nor Laegeforen 125 : 1004 ~ 1006 [2005]
  • Evidence for genetic variance in white matter hyperintensity volume in normal elderly male twins
    Carmelli D Stroke 29 : 1177 ~ 1181 [1998]
  • Evaluating the genetic component of ischemic stroke subtypes: a family history study
    Jerrard-Dunne P Stroke 34 : 1364 ~ 1369 [2003]
  • Estimation of effect size distribution from genome-wide association studies and implications for future discoveries.
    Park JH Nat Genet 42 : 570 ~ 575 [2010]
  • Epidemiology of stroke and its subtypes in Chinese vs white populations: a systematic review
    Tsai CF Neurology 81 : 264 ~ 272 [2013]
  • Enzyme replacement therapy for Anderson-Fabry disease
    El Dib RP Cochrane Database Syst Rev 2 : CD006663 ~ [2013]
  • Enzymatic abnormalities in diseases of sphingolipid metabolism
    Brady RO Clin Chem 13 : 565 ~ 577 [1967]
  • Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C
    Choi JC J Stroke Cerebrovasc Dis 22 : 126 ~ 131 [2013]
  • DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP)
  • Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
    Tikka S Brain 132 : 933 ~ 939 [2009]
  • Clinical-computed tomographic correlations of lacunar infarction in the Stroke Data Bank
    Chamorro A Stroke 22 : 175 ~ 181 [1991]
  • Clinical spectrum of CADASIL: a study of 7 families.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Chabriat H Lancet 346 : 934 ~ 939 [1995]
  • Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud’s phenomenon
    Terwindt GM Brain 121 (Pt 2) : 303 ~ 316 [1998]
  • Cerebrovascular complications of Fabry’s disease
    Mitsias P Ann Neurol 40 : 8 ~ 17 [1996]
  • Cerebroretinal vasculopathy. A new hereditary syndrome
    Grand MG Ophthalmology 95 : 649 ~ 659 [1988]
  • Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges
    Pantoni L. Lancet Neurol 9 : 689 ~ 701 [2010]
  • Cerebral small vessel disease : insights and opportunities from mouse models of collagen IV-related small vessel disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Joutel A Stroke 45 : 1215 ~ 1221 [2014]
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification
    Fukutake T J Stroke Cerebrovasc Dis 20 : 85 ~ 93 [2011]
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy : MR imaging findings at different ages--3rd-6th decades
    van den Boom R Radiology 229 : 683 ~ 690 [2003]
  • Cerebral amyloid angiopathy in the aged
    Yamada M J Neurol 234 : 371 ~ 376 [1987]
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Genetic Cause of Cerebral Small Vessel Disease
    최재철 Journal of Clinical Neurology 6 (1) : 1 ~ 9 [2010]
  • Candidate-gene approaches for studying complex genetic traits: practical considerations
    Tabor HK Nat Rev Genet 3 : 391 ~ 397 [2002]
  • Cadasil
    Chabriat H Lancet Neurol 8 : 643 ~ 653 [2009]
  • COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review
    Lanfranconi S Stroke 41 : e513 ~ 518 [2010]
  • COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
    Sibon I Ann Neurol 62 : 177 ~ 184 [2007]
  • COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
    Kuo DS Hum Mol Genet 21 : R97 ~ 110 [2012]
  • C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
    Richards A Nat Genet 39 : 1068 ~ 1070 [2007]
  • Beyond odds ratios--communicating disease risk based on genetic profiles
    Kraft P Nat Rev Genet 10 : 264 ~ 269 [2009]
  • Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease
    Hara K N Engl J Med 360 : 1729 ~ 1739 [2009]
  • Association between PRKCH gene polymorphisms and subcortical silent brain infarction
    Serizawa M Atherosclerosis 199 : 340 ~ 345 [2008]
  • Angiotensin-converting enzyme insertion/deletion polymorphism contributes to ischemic stroke risk: a meta-analysis of 50 case-control studies
    Zhang Z PLoS One 7 : e46495 ~ [2012]
  • Angiographic complications in CADASIL
    Dichgans M Lancet 349 : 776 ~ 777 [1997]
  • APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study
    Biffi A Lancet Neurol 10 : 702 ~ 709 [2011]
  • A population-based study of the incidence and prognosis of lacunar stroke
    Sacco S Neurology 66 : 1335 ~ 1338 [2006]
  • A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction
    Kubo M Nat Genet 39 : 212 ~ 217 [2007]
  • A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population
    Mendioroz M Neurology 75 : 2033 ~ 2035 [2010]