Results 121 to 130 of about 16,426 (214)

Genetic study of the NOTCH3 gene in CADASIL patients

, 2019
Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, neurological syndrome characterized by small vessel disease (SVD), stroke, vascular cognitive impairment and ...
Sanati, Mohammad Hossein, Fazeli, Seyed Abolhassan Shahzadeh, Mirzayee, Zahra, Tarzjani, Seyedeh Parisa Chavoshi   +3 more
core  

NOTCH3-related CADASIL and Non-NOTCH3-related CADASIL-like syndrome

Nosotchu, 2008
Mizuno, Toshiki, Hosomi, Akiko, Nagakane, Yoshinari, Oshima, Fumiko, Tomimoto, Hidekazu, Nakagawa, Masanori   +5 more
openaire   +2 more sources

NOTCH3 wt Allele [PDF]

, 2020
openaire   +1 more source

Role of Notch3 in sustaining UPR signaling in Notch3-overexpressing T-cell acute lymphoblastic leukemia.

, 2017
Introduction. Aberrant Notch signaling has been implicated in the development of several diseases, including T-cell acute lymphoblastic leukemia (T-ALL), a malignant disorder that originates from hematopoietic precursors committed to T-cell lineage ...
E Giuliani, D Bellavia, S Checquolo, R Palermo, G Diluvio, I Screpanti, MV Giuli   +6 more
core  

Inflammatory CADASIL: the cross-link between CADASIL and multiple sclerosis: a report of two cases and systematic review of the literature. [PDF]

BMC Neurol
Ahmed AM, Mistry N, Gehad AS, Hassan AM.
europepmc   +1 more source

Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL

The Journal of Clinical Investigation
Loss of arterial smooth muscle cells (SMCs) and abnormal accumulation of the extracellular domain of the NOTCH3 receptor (Notch3ECD) are the 2 core features of CADASIL, a common cerebral small vessel disease caused by highly stereotyped dominant ...
Nicolas Dupré, Florian Gueniot, Valérie Domenga-Denier, Virginie Dubosclard, Christelle Nilles, David Hill-Eubanks, Christelle Morgenthaler-Roth, Mark T. Nelson, Céline Keime, Lydia Danglot, Anne Joutel   +10 more
doaj   +1 more source

A novel missense variant Cys559Gly in <i>NOTCH3</i> in CADASIL family and vascular lesions in patients with migraine. [PDF]

Postep Psychiatr Neurol
Jastrzębski K, Kępczyński Ł, Plucińska A, Kowalska-Gałecka M, Gajos A.   +4 more
europepmc   +1 more source

Notch 3 (NOTCH3) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

NOTCH3 Gene Mutation [PDF]

, 2020
openaire   +1 more source

Prognostic Significance of <i>NOTCH3</i> Small Vessel Disease Staging for the <i>NOTCH3</i> p.R544C Variant. [PDF]

Neurol Genet
Shen YC, Chen CH, Chen HC, Cheng YW, Chang CY, Kuo PH, Chen YM, Lee WJ, Tang SC.   +8 more
europepmc   +1 more source