Results 81 to 90 of about 10,883 (231)

Stroke genetics: prospects for personalized medicine. [PDF]

, 2012
Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke ...
A Gschwendtner, A Hassan, A Helgadottir, A Helgadottir, A Joutel, A Viswanathan, AB Singleton, AJ Bowes, AV Shirodkar, B Rohrer, C Bellenguez, CAPRIE Steering Committee, CS Ku, D Sibbing, DF Gudbjartsson, DJ Klionsky, DK Wysowski, DL Bhatt, DR Holmes Jr, DS Budnitz, E Flossmann, G Paré, HC Diener, HS Markus, HS Markus, Hugh S Markus, J Hardy, JA Johnson, JB Olesen, JF Meschia, JL Mega, JN Hirschhorn, JT O'Brien, L Wang, M Dichgans, M Kubo, M Serizawa, MA Ikram, MV Holmes, P Jerrard-Dunne, P Kraft, P Polychronopoulos, PC Ng, RL Sacco, RS Epstein, S Bevan, S Gretarsdottir, S Gretarsdottir, S Lanfranconi, S Olsson, S Seshadri, S Seshadri, SE Nissen, The International Warfarin Pharmacogenetics Consortium, VG Manolopoulos, VL Roger   +55 more
core   +2 more sources

Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 12, December 2025.
This study presents a comprehensive analysis of the genetic and clinical spectrum of Krabbe disease in a Chinese cohort, with a particular focus on adult‐onset cases. We identified 11 GALC variants, including the novel mutation p.P340L, and provided functional evidence supporting its pathogenicity through impaired protein processing, mislocalization ...
Yi Zhang, Hui‐Fen Huang, Juan‐Juan Xie, Wang Ni, Hao Yu, Zhi‐Ying Wu   +5 more
wiley   +1 more source

Is migraine a common manifestation of CADASIL? Arguments Pros

The Journal of Headache and Pain
Background Migraine with aura (MA) is a hallmark feature of CADASIL, a hereditary small-vessel disease caused by NOTCH3 mutations. While MA is prevalent in CADASIL, its underlying mechanisms remain unclear, and the links observed can be questioned or ...
Hugues Chabriat
doaj   +1 more source

Microvascular Pathology and Morphometrics of Sporadic and Hereditary Small Vessel Diseases of the Brain [PDF]

, 2014
Small vessel diseases (SVDs) of the brain are likely to become increasingly common in tandem with the rise in the aging population. In recent years, neuroimaging and pathological studies have informed on the pathogenesis of sporadic SVD and several ...
Adler, Alafuzoff, Arvanitakis, Bailey, Baker, Bell, Brown, Brown, Brown, Brown, Brown, Brulin-Fardoux, Brun, Burke, Carare, Caronti, Chabriat, Colmant, Craggs, Craggs, Cumurciuc, Dalkara, Debette, Deramecourt, Ding, Dubois, Dubois, Dziewulska, Emre, Esiri, Fazekas, Fernando, Ferrer, Foster, Furuta, Furuyama, Gamble, Giwa, Gold, Gould, Gould, Grand, Grinberg, Hachinski, Hagel, Hara, Haritoglou, Hassan, Hawkes, Hirabayashi, Ho, Hoffmann, Huang, Ihara, Janaway, Jellinger, Jen, Jouvent, Jouvent, Kalaria, Kalaria, Kalaria, Kalimo, Kalimo, Kinoshita, Kovari, Kovari, Kuo, Lammie, Lammie, Lanfranconi, Lesnik Oberstein, Liem, Liu, Low, McKeith, Miao, Miao, Miao, Moody, Neuropathology Group, Nichtweiss, O'Sullivan, Okamoto, Okamoto, Okeda, Okeda, Okeda, Ophoff, Pantoni, Patankar, Plaisier, Polvikoski, Roman, Ruchoux, Savva, Schmidt, Schmidt, Sibon, Simpson, Simpson, Smallwood, Soontornniyomkij, Sorbi, Sourander, Suter, Swieten, Tanoi, Terwindt, Vahedi, Vahedi, Van der Flier, Verreault, Viswanathan, Viswanathan, Volonghi, Wardlaw, Wardlaw, Wardlaw, Winkler, Yamamoto, Yamamoto, Yamamoto, Yanagawa, Yao, Yao, Yemisci, Zhang, Zhu   +128 more
core   +1 more source

Mouse model of CADASIL reveals novel insights into Notch3 function in adult hippocampal neurogenesis

Neurobiology of Disease, 2015
Could impaired adult hippocampal neurogenesis be a relevant mechanism underlying CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)? Memory symptoms in CADASIL, the most common hereditary form of vascular
Fanny Ehret, Steffen Vogler, Sherin Pojar, David A. Elliott, Frank Bradke, Barbara Steiner, Gerd Kempermann   +6 more
doaj   +1 more source

Association between ischemic stroke, hemorrhagic stroke, dementia, and rs201118034 among general Taiwanese population

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract INTRODUCTION We investigated the association between the NOTCH3 rs201118034 variant and the risk of ischemic stroke, hemorrhagic stroke, and dementia within a Taiwanese population. METHODS Data from 114,233 individuals enrolled in the Taiwan Biobank were analyzed, integrating clinical diagnoses from the National Health Insurance Research ...
Yi‐Chia Liaw, Che‐Hong Chen, Shu‐Yi Hsu, Yi‐Ching Liaw, Yung‐Po Liaw   +4 more
wiley   +1 more source

Adaptive metabolic changes in CADASIL white matter [PDF]

, 2018
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important genetic cause of stroke, but pathogenic mechanisms and functional alterations remain poorly characterized.
Akhvlediani, Tamar, Boesiger, Peter, Henning, Anke, Jung, Hans, Sándor, Peter   +4 more
core  

White matter pathology and disconnection in the frontal lobe in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [PDF]

, 2013
Background; Magnetic resonance imaging indicates diffuse white matter (WM) changes are associated with cognitive impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Burke, M, Craggs, LJL, Duering, M, Fenwick, R, Ihara, M, Kalaria, RN, Kretzschmar, H, Oakley, AE, Roeber, S, Yamamoto, Y   +9 more
core   +2 more sources

A Report of Accelerated Coronary Artery Disease Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Case Reports in Cardiology, 2015
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable form of vascular dementia and it is caused by mutations in the NOTCH3 gene.
Courtney B. Rubin, Virginia Hahn, Taisei Kobayashi, Andrew Litwack   +3 more
doaj   +1 more source

Revolutionizing Heart Valve Therapy: A Translational Framework for Combining Decellularized Scaffolds With Genetic Modification

Journal of Biomedical Materials Research Part B: Applied Biomaterials, Volume 113, Issue 11, November 2025.
ABSTRACT Valvular heart disease (VHD) represents a significant global health challenge, affecting over 2.5% of the population and disproportionately impacting older adults due to age‐related degenerative processes. Current treatment options—mechanical and bioprosthetic valves—both present substantial limitations that impact patient quality of life and ...
Nikolaos P. Tzavellas, Natalia Atzemoglou, Efstathios L. Pavlidis, Alkinoos Nikolis, Georgios S. Markopoulos, Konstantinos I. Tsamis, Dimitrios Peschos, Yannis V. Simos, Lampros Lakkas   +8 more
wiley   +1 more source