Results 101 to 110 of about 8,915 (192)

Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions

Clinical Parkinsonism & Related Disorders
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric ...
Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano   +9 more
doaj   +1 more source

Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial [PDF]

Background and Purpose-Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a rare autosomal dominant disorder caused by NOTCH3 mutations, is characterized by vascular smooth muscle and endothelial cells ...
Campolo, Jonica, De Maria, Renata, Federico, Antonio, Frontali, Marina, Parodi, Oberdan, Parolini, Marina, Taroni, Franco   +6 more
core  

CADASIL

Fortschritte der Neurologie · Psychiatrie, 1999
J. Mellies, P. Calabrese, H. Roth, W. Gehlen   +3 more
openaire   +3 more sources

Cerebral perfusion parameters in acute, subacute, or chronic middle cerebral artery territory ischaemia [PDF]

, 2004
published_or_final_versio
Cheung, RTF
core  

First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts—case report and brief review

BMC Neurology
Background CADASIL(Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)is an inherited small vessel disease caused by mutations in NOTCH3 gene.
Weili Liu, Jie Zhang, Jian Li, Shuai Jia, Yanqiang Wang, Jianhong Geng, Yaozhen Wang   +6 more
doaj   +1 more source

CADASIL Registry in East Asia (CADREA): Protocol for an international prospective cohort study

Cerebral Circulation - Cognition and Behavior
Introduction: Recent advancements in genomic research have revealed that 9 individuals per 1,000 population in East Asia and 3.4 individuals per 1,000 population worldwide carry cysteine-altering NOTCH3 variants in the epidermal growth factor-like repeat
Satoshi Saito, Soichiro Abe, Kunihiro Nishimura, Toshiki Mizuno, Osamu Onodera, Sung-Chun Tang, Yi-Chung Lee, Jay Chol Choi, Masafumi Ihara   +8 more
doaj   +1 more source

Silent brain infarcts and leukoaraiosis in young patients with first-ever ischemic stroke [PDF]

, 2010
We investigated the features of and risk factors for magnetic resonance imaging(MRI)-defined SBIs and leukoaraiosis in 1008 consecutive adults aged 15-49 years with first-ever ischemic stroke.We analyzed the radiologic features of SBIs and leukoaraiosis ...
Kurkinen, Minna
core  

Is migraine a common manifestation of CADASIL-Cons

The Journal of Headache and Pain
Headaches and transient neurological symptoms that bear resemblances to clinical manifestations of migraine, especially migraine with aura, are common among patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and ...
Yen-Feng Wang
doaj   +1 more source

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene [PDF]

, 2000
Mortier, Geert, Nuytinck, Lieve, Craen, Margarita, Renard, Jean-Pierre, Leroy, Juliaan, De Paepe, Anne   +5 more
core   +2 more sources

CHARACTERIZING CEREBRAL SMALL VESSEL DISEASE WITH A FOCUS ON CADASIL AS A GENETIC MODEL -AN MRI BASED APPROACH [PDF]

, 2014
Gunda Bence
core   +1 more source