Results 191 to 200 of about 1,441,098 (322)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Complement updates in optic neuritis. [PDF]

open access: yesFront Neurol
He Y, Guo K, Xin J.
europepmc   +1 more source

Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar   +7 more
wiley   +1 more source

Tumor stage-driven disruption of NK cell maturation in human and murine tumors

open access: yesiScience
Summary: Natural killer (NK) cells play a pivotal role against cancer, both by direct killing of malignant cells and by promoting adaptive immune response though cytokine and chemokine secretion.
Jules Russick   +16 more
doaj  

Atypical Hemolytic Uremic Syndrome: A Review of Complement Dysregulation, Genetic Susceptibility and Multiorgan Involvement. [PDF]

open access: yesJ Clin Med
Bogdan RG   +7 more
europepmc   +1 more source

Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune nodopathy (AN), a newly recognized disease entity, is an immune‐mediated polyneuropathy involving autoantibodies against cell adhesion molecules located in nodes of Ranvier and paranodal regions, such as neurofascin 186 (NF186) and neurofascin 155 (NF155). The present study aimed to identify the epitopes for autoantibodies
Amina A. Abdelhadi   +6 more
wiley   +1 more source

Inflammation-Driven Plaque Erosion in Atherosclerosis: A Focus on Complement System Pathways. [PDF]

open access: yesCurr Atheroscler Rep
Ramoni D   +5 more
europepmc   +1 more source

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