Results 61 to 70 of about 10,883 (231)

Mixed Brain Pathologies in Dementia: The BrainNet Europe Consortium Experience [PDF]

, 2008
Background: Dementia results from heterogeneous diseases of the brain. Mixed disease forms are increasingly recognized. Methods: We performed a survey within brain banks of BrainNet Europe to estimate the proportion of mixed disease forms underlying ...
Al-Sarraj, Safa, Alafuzoff, Irina, Arzberger, Thomas, Bogdanovic, Nenad, Budka, Herbert, Capellari, Sabina, Ferrer, Isidro, Gelpi, Ellen, Kovacs, Gabor G., Kovari, Viktor, Kretzschmar, Hans, Nagy, Zoltan, Parchi, Piero, Seilhean, Danielle, Soininen, Hilkka, Troakes, Claire   +15 more
core   +1 more source

De novo mutation in the NOTCH3 gene causing CADASIL

Biomolecules & Biomedicine, 2014
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia.
Dragan Stojanov, Danijela Grozdanović, Sladjana Petrović, Daniela Benedeto-Stojanov, Ivan Stefanović, Nebojša Stojanović, Dušica N. Ilić   +6 more
doaj   +1 more source

Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation [PDF]

, 2018
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder.
Aramburu-Núñez, Marta, Arias, Susana, Campos, Francisco, Castillo, José, Collado, Manuel, Dell'Era, Patrizia, Fernández-Susavila, Héctor, López-Arias, Esteban, Mora, Cristina, Quintas-Rey, Rita, Sobrino, Tomás   +10 more
core   +3 more sources

Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells

Protein & Cell, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebrovascular disease caused by a NOTCH3 mutation.
Chen Ling, Zunpeng Liu, Moshi Song, Weiqi Zhang, Si Wang, Xiaoqian Liu, Shuai Ma, Shuhui Sun, Lina Fu, Qun Chu, Juan Carlos Izpisua Belmonte, Zhaoxia Wang, Jing Qu, Yun Yuan, Guang-Hui Liu   +14 more
doaj   +1 more source

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. [PDF]

PLoS ONE, 2015
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement.
Yi-Chu Liao, Cheng-Tsung Hsiao, Jong-Ling Fuh, Chang-Ming Chern, Wei-Ju Lee, Yuh-Cherng Guo, Shuu-Jiun Wang, I-Hui Lee, Yo-Tsen Liu, Yen-Feng Wang, Feng-Chi Chang, Ming-Hung Chang, Bing-Wen Soong, Yi-Chung Lee   +13 more
doaj   +1 more source

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL [PDF]

, 2014
Background and Purpose—White matter hyperintensities (WMH) on MRI are a quantitative marker for sporadic cerebral small vessel disease and are highly heritable.
Adib-Samii, P., Bevan, S., Boon, E. M. J., Bracoud, L., Chabriat, H., De Stefano, N., Dichgans, M., Dotti, M. T., Duering, M., Federico, A., Gonik, M., Herve, D., Jouvent, E., Lesnik Oberstein, S., Liem, M., Malik, R., Markus, H. S., Meitinger, T., Muller-Myhsok, B., Opherk, C., Pachai, C., Pantoni, L., Pescini, F., Pianese, L., Ragno, M., Rosand, J., Rost, N., Silvestri, S., Tournier-Lasserve, E.   +28 more
core   +1 more source

Energetic microdomains and the vascular control of neuronal and muscle excitability: Toward a unified model

The Journal of Physiology, EarlyView.
Abstract figure legend The capillary–mitochondria–ion channel (CMIC) axis scales structural resources to match functional workload. (Left) In settings of restricted energetic capacity (e.g. cortical neurons), sparse capillary networks and modest mitochondrial pools set a lower energetic ceiling, sufficient to support phasic, low‐workload excitability. (
L. Fernando Santana, Scott Earley
wiley   +1 more source

An Integrated QSM‐Radiomics Nomogram With Clinical and Imaging Markers for Stratifying Cognitive Impairment in Hypertension

CNS Neuroscience &Therapeutics, Volume 32, Issue 2, February 2026.
This study developed an integrated nomogram combining QSM‐based radiomics, brain iron deposition, white matter hyperintensity, and clinical markers. This model demonstrated superior performance in stratifying hypertensive cognitive impairment compared to traditional single‐parameter models.
Yu Su, Tingting Liu, Chengjun Dong, Limin Ge, Tianxiang Li, Zhiqing Zhang, Yihan Zhang, Chungao Li, Jie Zhao, Chuansheng Zheng, E. Mark Haacke, Wenjun Wu, Lixia Wang   +12 more
wiley   +1 more source

A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

Frontiers in Genetics, 2022
Introduction: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant systemic vascular disease that primarily involves small arteries.
Juyi Li, Tao Luo, Xiufang Wang, Mengjie Wang, Tao Zheng, Xiao Dang, Aiping Deng, Youzhi Zhang, Sheng Ding, Ping Jing, Lin Zhu   +10 more
doaj   +1 more source

Global Research Trends and Hotspots in Cerebral Small Vessel Disease‐Related Cognitive Impairment: A Bibliometric Analysis (2001–2024)

Brain and Behavior, Volume 16, Issue 1, January 2026.
This bibliometric study systematically analyzed 1074 publications in the field of CSVD‐CI from 2001 to 2024. The research reveals three evolutionary phases and identifies four core research clusters: pathophysiological mechanisms, neuroimaging biomarkers, clinical assessment, and therapeutic interventions.
Kuihua Wang, Xiaohui Ji, Hui Li, Xiaoyang Wang, Xiaoyue Jin, YanJun Lin, Qiao Wang, Haizhen Xu, Jianxin Ye, Xiaoping Cui, Yonghui Liang   +10 more
wiley   +1 more source