Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation
暂无分享,去创建一个
H. Takashima | T. Tokashiki | A. Yoshimura | N. Kanzato | M. Suehara | H. Matsuoka | R. Okubo | Junhui Yuan | Y. Higuchi | M. Ando | N. Kanda | M. Jonosono | Jun Takei | N. Fujisaki | E. Matsuura | T. Sueyoshi
[1] Liying Zhuang,et al. Occurrence of Intracranial Hemorrhage and Associated Risk Factors in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Systematic Review and Meta-Analysis , 2022, Journal of clinical neurology.
[2] Sung-Chun Tang,et al. Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage , 2022, European journal of neurology.
[3] R. van Doorn,et al. NO TCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature , 2021, Neuropathology and applied neurobiology.
[4] Haiyun Tang,et al. NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients , 2021, Frontiers in Genetics.
[5] D. Tozer,et al. NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants , 2021, Journal of Neurology, Neurosurgery, and Psychiatry.
[6] H. Fukuyama,et al. A Nationwide Survey and Multicenter Registry-Based Database of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy in Japan , 2020, Frontiers in Aging Neuroscience.
[7] Eun-Jae Lee,et al. Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations , 2020, PloS one.
[8] Yi-Chung Lee,et al. Cerebral Microbleed Burdens in Specific Brain Regions Are Associated With Disease Severity of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy , 2020, Journal of the American Heart Association.
[9] I. Mizuta,et al. Prevalence and Atypical Clinical Characteristics of NOTCH3 Mutations Among Patients Admitted for Acute Lacunar Infarctions , 2020, Frontiers in Aging Neuroscience.
[10] A. Koster,et al. Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice , 2019, Translational Stroke Research.
[11] Yerim Kim,et al. Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL , 2019, Medicina.
[12] I. Mizuta,et al. The CADASIL Scale-J, A Modified Scale to Prioritize Access to Genetic Testing for Japanese CADASIL-Suspected Patients. , 2019, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.
[13] Sung-Chun Tang,et al. Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation , 2018, Journal of Neurology, Neurosurgery, and Psychiatry.
[14] Sven Haller,et al. Cerebral Microbleeds: Imaging and Clinical Significance. , 2018, Radiology.
[15] L. Pantoni,et al. Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients , 2018, PloS one.
[16] S. Tsuji,et al. Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 , 2016, Annals of neurology.
[17] Wei‐Ju Lee,et al. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles , 2015, PloS one.
[18] Takaaki Ito,et al. Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014 , 2015, Journal of Neurology.
[19] E. Zackai,et al. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome , 2015, American journal of medical genetics. Part A.
[20] G. Terwindt,et al. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL , 2014, Expert review of molecular diagnostics.
[21] Yiran Guo,et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. , 2013, American journal of human genetics.
[22] N. Yamada,et al. Clinical characteristics by topographical distribution of brain microbleeds, with a particular emphasis on diffuse microbleeds. , 2011, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.
[23] D. Werring,et al. The Microbleed Anatomical Rating Scale (MARS) , 2009, Neurology.
[24] Eric E. Smith,et al. MR Imaging Detection of Cerebral Microbleeds: Effect of Susceptibility-Weighted Imaging, Section Thickness, and Field Strength , 2008, American Journal of Neuroradiology.
[25] P. Kirchhof,et al. Detection of asymptomatic cerebral microbleeds: a comparative study at 1.5 and 3.0 T. , 2008, Academic radiology.
[26] Max Wintermark,et al. Imaging of intracranial haemorrhage , 2008, The Lancet Neurology.
[27] Martin Dichgans,et al. Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study. , 2006, Brain : a journal of neurology.
[28] J. S. Kim,et al. Characteristics of CADASIL in Korea , 2006, Neurology.
[29] L. Pantoni,et al. The spectrum of Notch3 mutations in 28 Italian CADASIL families , 2005, Journal of Neurology, Neurosurgery & Psychiatry.
[30] M. Viitanen,et al. Detection of the founder effect in Finnish CADASIL families , 2004, European Journal of Human Genetics.
[31] V. Mok,et al. Cerebral microbleeds and white matter changes in patients hospitalized with lacunar infarcts , 2004, Journal of Neurology.
[32] M. Ferrari,et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages--3rd-6th decades. , 2003, Radiology.
[33] T. Tabira,et al. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis , 2003, Journal of the Neurological Sciences.
[34] Nils Peters,et al. Cerebral Microbleeds in CADASIL: A Gradient-Echo Magnetic Resonance Imaging and Autopsy Study , 2002, Stroke.
[35] M. Ferrari,et al. Cerebral microbleeds in CADASIL , 2001, Neurology.
[36] S. Greenberg,et al. Clinical diagnosis of cerebral amyloid angiopathy: Validation of the Boston Criteria , 2003, Current atherosclerosis reports.
[37] J. Hatazawa,et al. Assessment of lacunar hemorrhage associated with hypertensive stroke by echo-planar gradient-echo T2*-weighted MRI. , 2000, Stroke.
[38] M. Dichgans,et al. The phenotypic spectrum of CADASIL: Clinical findings in 102 cases , 1998, Annals of neurology.
[39] J. Weissenbach,et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia , 1996, Nature.
[40] J. Weissenbach,et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12 , 1993, Nature Genetics.
[41] P. Scheltens,et al. White matter lesions on magnetic resonance imaging in clinically diagnosed Alzheimer's disease. Evidence for heterogeneity. , 1992, Brain : a journal of neurology.
[42] A. Alavi,et al. MR signal abnormalities at 1.5 T in Alzheimer's dementia and normal aging. , 1987, AJR. American journal of roentgenology.
[43] Y. Nagakane,et al. Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue. , 2008, Internal medicine.