Results 131 to 140 of about 106,352 (314)
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Regulation of activation induced deaminase
, 2009 Activation Induced Deaminase (AID) belongs to the protein family of DNA deaminases, which catalyse the deamination of the cytosine residues in single stranded DNA, resulting in the formation of deoxy-uracils.
Pauklin, S.
core
A novel immunoglobulin-like transcript from rainbow trout with two Ig-like domains and two isoforms
, 2008 Within the innate immune response in primates the noturearranging killer immunoglobulin-like receptors (KIR) enable natural killer cells to discern target cells exposing "missing self" signals. Recently the novel immune-type receptor (NITR) and the novel
Kock, Holger, Fischer, Uwe
core +1 more source
Arquivos de Neuro-PsiquiatriaBackground Oligoclonal bands (OCBs) and Kappa free light chains (FLCs) in the cerebrospinal fluid (CSF) are sensitive markers of intrathecal immunoglobulin (Ig)G synthesis in patients with multiple sclerosis.
Renan Barros Domingues +3 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang +23 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah +8 more
wiley +1 more source
Rheumatologic Manifestations of Patients With Type B Insulin Resistance
Arthritis Care &Research, EarlyView.Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya +4 more
wiley +1 more source