Results 261 to 270 of about 1,343,581 (337)

Evidence of blood–brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods A prospective case–control study comparing proteomic, metabolomic, and immune profiles in individuals with DSRD was performed.
Jonathan D. Santoro   +12 more
wiley   +1 more source

Assessment of concurrent neoplasms and a paraneoplastic association in MOGAD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Cases of myelin oligodendrocyte glycoprotein (MOG) antibody‐associated disease (MOGAD) co‐occurring with neoplasms have been reported. In this international, retrospective cohort study in South Korea and the USA, 16 of 445 (3.6%) patients with MOGAD had concurrent neoplasm within 2 years of MOGAD onset, resulting in a standardized incidence ...
Young Nam Kwon   +24 more
wiley   +1 more source

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

CSF cytokine, chemokine and injury biomarker profile of glial fibrillary acidic protein (GFAP) autoimmunity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Defining the CSF cytokine/chemokine and injury biomarker signature of glial fibrillary acidic protein (GFAP) autoimmunity can inform immunopathogenesis. CSF GFAP‐IgG‐positive samples (N = 98) were tested for 17 cytokines/chemokines, neurofilament light chain (NfL), and GFAP (ELLA, Bio‐Techne).
Yahel Segal   +11 more
wiley   +1 more source

Control of blood proteins by functional disulfide bonds.

open access: yesBlood, 2014
Butera D   +4 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

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks   +20 more
wiley   +1 more source

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