Results 251 to 260 of about 602,933 (343)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 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

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

Huntingtin inclusion bodies have distinct immunophenotypes and ubiquitination profiles in the Huntington's disease human cerebral cortex. [PDF]

open access: yesSci Rep
Swanson MEV   +10 more
europepmc   +1 more source

Cerebral cortex

open access: yes, 2017
Frank Gaillard, Tariq Walizai, Yoshi Yu
openaire   +1 more source

Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Lewy body disease (LBD) is a complex neurodegenerative disorder characterized by the accumulation of misfolded α‐synuclein in the brain. Neuroinflammation has long been implicated in LBD pathogenesis, and recent genetic studies in Parkinson's disease (a clinical manifestation of LBD) have shown consistent association with the human leukocyte ...
Marios Gavrielatos   +34 more
wiley   +1 more source

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