Results 181 to 190 of about 282,480 (358)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

open access: yesAnnals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko   +9 more
wiley   +1 more source

Back Again to the Future: A New Era for Cerebroprotection

open access: yesAnnals of Neurology, EarlyView.
Cerebroprotection is a fresh framework for designing neurological therapy that targets glia and vascular cells, in addition to neurons. In the future, successful cerebroprotection will involve targeting all elements of the neurovascular unit. Preclinical trials must include functional outcomes, as well as lesion morphometry.
Patrick Lyden
wiley   +1 more source

Hypoperfusion-related functional abnormalities of middle cerebral artery stenotic-occlusive disease. [PDF]

open access: yesBrain Commun
Zou Y   +12 more
europepmc   +1 more source

Expression of Angiopoietin-1, Angiopoietin-2, and Tie Receptors after Middle Cerebral Artery Occlusion in the Rat [PDF]

open access: bronze, 2000
Heike Beck   +4 more
openalex   +1 more source

Disruption of the Blood–Brain Barrier Predicts Progression of Cerebral Small Vessel Disease White Matter Hyperintensities

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to test if blood–brain barrier (BBB) disruption, detected using dynamic susceptibility contrast (DSC) imaging, would predict progression of white matter hyperintensities (WMHs) over the subsequent year in patients with chronic cerebrovascular disease. Methods The study included patients with a history of stroke
Richard Leigh   +4 more
wiley   +1 more source

Middle Cerebral Artery Peak Systolic Velocity in Fetuses With Transposition of the Great Arteries. [PDF]

open access: yesPrenat Diagn
Jørgensen DS   +8 more
europepmc   +1 more source

Numerical Simulation of Hemodynamics on the Middle Cerebral Artery

open access: diamond, 2002
Kyohei NAGANO   +3 more
openalex   +1 more source

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