Results 101 to 110 of about 10,883 (231)

CADASIL: Klinik-Genetik Korelasyon

, 2021
Turgay Demir, Dilek İşçan, Filiz Koç, Atıl Bişgin   +3 more
openalex   +2 more sources

Proteomic profiling in cerebral amyloid angiopathy reveals an overlap with CADASIL highlighting accumulation of HTRA1 and its substrates [PDF]

, 2022
Andreas Zellner, Stephan A. Müller, Barbara Lindner, Nathalie Beaufort, Annemieke J.M. Rozemüller, Thomas Arzberger, Nils C. Gassen, Stefan F. Lichtenthaler, Bernhard Küster, Christof Haffner, Martin Dichgans   +10 more
openalex   +1 more source

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry [PDF]

, 2016
BACKGROUND AND PURPOSE: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS
Agostoni, E, Arbustini, E, Arnaboldi, M, Baratta, S, Baron, P, Bassi, Mt, Beretta, S, Bersano, A, Boncoraglio, Gb, Bono, G, Bordo, Bm, Braga, M, Calloni, Mv, Candelise, L, Capitani, E, Carrera, P, Cavallini, A, Cereda, C, Checcarelli, N, Colombo, A, Comi, G, Comi, Gp, Corato, M, Corti, S, De Lodovici, Ml, Ferrarese, C, Ferrari, M, Fusi, L, Gellera, C, Grampa, G, Grasso, M, Grieco, G, Grond-Ginsbach, C, Guidotti, M, Incorvaia, B, Lanfranconi, S, Marcheselli, S, Markus, Hs, Mazucchelli, F, Merlini, G, Micieli, G, Molini, G, Mosca, L, Motto, C, Obici, L, Padovani, A, Parati, Ea, Penco, S, Perrone, P, Pezzini, A, Quaglini, S, Ronchi, D, Sasanelli, F, Sessa, M, Tadeo, Cs, Tancredi, L, Taroni, F, Trobia, N, Uccellini, D, Verrengia, Ep, Vitali, P, Zarcone, D   +61 more
core   +1 more source

CADASIL

EMC - Neurologia, 2011
Angela Eastvold, Yana Suchy
  +5 more sources

Novel mutation of the NOTCH3 gene in Arabic family with CADASIL

Neurology International, 2011
Mutations in the NOTCH3 gene are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult onset hereditary angiopathy leading to ischemic stroke, vascular dementia and psychiatric ...
Saeed Bohlega
doaj   +1 more source

Les migraines: des gènes à l'environnement [PDF]

, 2012
Peer ...
MAGIS, Delphine, Schoenen, Jean
core  

CADASIL: case report

Dementia & Neuropsychologia, 2012
ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3.
Silva, Julio Cesar Vasconcelos da, Gasparetto, Emerson L., Engelhardt, Eliasz   +2 more
openaire   +5 more sources

The INECO Frontal Screening for the Evaluation of Executive Dysfunction in Cerebral Small Vessel Disease: Evidence from Quantitative MRI in a CADASIL Cohort from Colombia – Corrigendum [PDF]

, 2020
Dorothée Schoemaker, Yesica Zuluaga, Anand Viswanathan, Markus D. Schirmer, Heirangi Torrico‐Teave, Lina Velilla, Carolina Ospina, Gloria Garcia Ospina, Francisco Lopera, Joseph F. Arboleda‐Velásquez, Yakeel T. Quiroz   +10 more
openalex   +1 more source

Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation [PDF]

, 2023
Jun Takei, Yujiro Higuchi, Masahiro Ando, Akiko Yoshimura, Jun‐Hui Yuan, Natsumi Fujisaki, Takashi Tokashiki, Naomi Kanzato, Manabu Jonosono, Takeshi Sueyoshi, Naoaki Kanda, Hideki Matsuoka, Ryuichi Okubo, Masahito Suehara, Eiji Matsuura, Hiroshi Takashima   +15 more
openalex   +1 more source

Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL

Annals of Clinical and Translational Neurology
Introduction Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cerebral small vessel disease in adults. This study investigates the occurrence, risk factors, and prognosis of
Xuejiao Men, Hui Li, Zhuoxin Guo, Bin Qin, Hengfang Ruan, Ruipeng Cai, Bingjun Zhang, Aimin Wu, Lei Wei, Yongqiang Dai, Haiyan Li, Zhengqi Lu   +11 more
doaj   +1 more source