Results 271 to 280 of about 1,944,890 (372)

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi   +8 more
wiley   +1 more source

Post-Secretion Processes and Modification of Extracellular Vesicles. [PDF]

open access: yesCells
Ten A   +6 more
europepmc   +1 more source

ALS plasma biomarkers reveal neurofilament and pTau correlate with disease onset and progression

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective We performed a pilot screen to assess the utility of the NULISA™ (Nucleic‐acid‐Linked Immuno‐Sandwich Assay) platform in the identification of amyotrophic lateral sclerosis (ALS) biomarkers. Methods Plasma from 86 individuals (48 ALS, 18 asymptomatic C9orf72 repeat expansion carriers (AsymC9), and 20 healthy controls) was analyzed ...
Eleanor V. Thomas   +10 more
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

Associations of Cerebrospinal Fluid Orexin‐A, Alzheimer Disease Biomarkers, and Cognitive Performance

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACTObjectiveCerebrospinal fluid (CSF) orexin‐A has been suggested to be a biomarker of Alzheimer disease (AD). In both cognitively unimpaired healthy older adults and individuals with symptomatic AD, CSF orexin‐A is positively associated with CSF Aβ42, p‐tau181, and total tau (t‐tau) concentrations.
Ruijin Lu   +13 more
wiley   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy