Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer +11 more
wiley +1 more source
Formation of Blood Droplets: Influence of the Plasma Proteins
ACS Omega, 2018 Shantimoy Kar +4 more
doaj +1 more source
Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who experienced worsening spastic paraparesis and neurogenic bladder dysfunction.
Jiahui Zeng +5 more
wiley +1 more source
Cytokine, Chemokine, and Neurofilament Light Chain Signatures in LGI1 Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the value of cytokine, chemokine, and neurofilament light chain (NfL) concentrations in predicting relapse risk, chronic epilepsy, and functional impairment in LGI1 autoimmune encephalitis (AE). Methods Cytokines/chemokines (IL‐1‐beta, IL‐2, IL‐4, IL‐5, IL‐6, IL‐8/CXCL8, IL‐10, IL‐12p70, IL‐13, IL‐17A, GM‐CSF, TNF ...
Albert Aboseif +17 more
wiley +1 more source
Altered levels of blood proteins in Alzheimer's disease longitudinal study: Results from Australian Imaging Biomarkers Lifestyle Study of Ageing cohort. [PDF]
Alzheimers Dement (Amst), 2017 Gupta VB +12 more
europepmc +1 more source
BLOOD AND LIVER PROTEINS IN SURGICAL PATIENTS AS RELATED TO PROTEIN DEPLETION
, 1948 Harry H. LeVeen, William H. Fishman
openalex +2 more sources
Effects of Non‐Aspirin Nonsteroidal Anti‐Inflammatory Drugs on Acute Intracerebral Hemorrhage
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite celecoxib, a cyclooxygenase‐2 inhibitor, promoting functional recovery from intracerebral hemorrhage (ICH) by reducing inflammation‐mediated perihematomal edema in rat models, the evidence of its effects on patient outcomes remains limited.
Shin‐Joe Yeh +3 more
wiley +1 more source
Tempol protects blood proteins and lipids against peroxynitrite-mediated oxidative damage. [PDF]
Exp Biol Med (Maywood), 2015 Mustafa AG +3 more
europepmc +1 more source
Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald +74 more
wiley +1 more source