Results 211 to 220 of about 5,038,071 (294)

TRANSPORT OF PROTEINS ACROSS THE FETAL MEMBRANES

open access: yesCold Spring Harbor Symposia on Quantitative Biology, 1954
openaire   +2 more sources

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini   +12 more
wiley   +1 more source

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin   +11 more
wiley   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai   +13 more
wiley   +1 more source

The PD Effluentome-A Multi-Omics Atlas Defining the Composition, Transport Dynamics, and Molecular Origin of Peritoneal Dialysis Effluent. [PDF]

open access: yesMed Sci (Basel)
Herzog R   +11 more
europepmc   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar   +7 more
wiley   +1 more source

Clinical, Histologic, and Serological Predictors of Renal Function Loss in Lupus Nephritis

open access: yesArthritis Care &Research, EarlyView.
Objective Kidney survival is the ultimate goal in lupus nephritis (LN) management, but long‐term predictors remain inadequately studied, requiring long‐term follow‐up. This study aimed to identify baseline and early longitudinal predictors of kidney survival in the Accelerating Medicines Partnership LN longitudinal cohort.
Shangzhu Zhang   +21 more
wiley   +1 more source

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