Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Angewandte Chemie, EarlyView.Parallel mass spectrometry imaging acquires high mass resolution and tandem mass spectrometry images from 108 isolation windows in a single run. Spatial similarity networking clusters product ions by spatial distribution, enabling annotation of isomers and isobars as demonstrated for phospholipids and oxidized cholesterol in mouse and human brain ...
Varun V. Sharma +5 more
wiley +2 more sources
Epstein-Barr virus infection and vitamin D deficiency are both "causal" for multiple sclerosis (MS) - could the common denominator be their effects on hepcidin levels? [PDF]
Metab Brain Disvan Rensburg SJ +5 more
europepmc +1 more source
The signal intensity variation of multiple sclerosis (MS) lesions on magnetic resonance imaging (MRI) as a potential biomarker for patients' disability: A feasibility study. [PDF]
Front Neurosci, 2023 Sedaghat S +5 more
europepmc +1 more source
Annals of Neurology, EarlyView.Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo +16 more
wiley +1 more source
The effectiveness of garlic (<i>Allium sativum</i>) extract in improving fatigue and quality of life in patients with multiple sclerosis (MS): a randomized single-blind placebo-controlled clinical trial. [PDF]
Res Pharm SciShaygannejad V +5 more
europepmc +1 more source
Functional Segregation of Epileptogenicity within the Human Amygdala
Annals of Neurology, EarlyView.Objective In temporal lobe epilepsy (TLE), the amygdala in the epileptogenic network is underestimated compared to other regions such as the hippocampus. Recent advances in anatomical neuroimaging and stereoelectroencephalography (SEEG) signal analyses could help better understand the involvement of the different amygdala nuclei in the genesis of ...
Odile Feys +14 more
wiley +1 more source
Incidence of multiple sclerosis (MS) relapse after COVID-19 infection: A systematic review and meta-analysis. [PDF]
Caspian J Intern MedMomeni Moghaddam A +4 more
europepmc +1 more source
Uveitis prior to clinical presentation of Multiple Sclerosis (MS) is associated with better MS prognosis. [PDF]
PLoS One, 2022 Raskin E +4 more
europepmc +1 more source
Annals of Neurology, EarlyView.Objective The extent of neuronal loss in Parkinson's disease (PD) and the pathogenic processes underlying neuronal dysfunction and loss remain poorly understood. Here, we analyzed the expression of key molecules representing different cell death signaling pathways and their association with Lewy pathology, dopaminergic (DA) neuron loss and stage of PD ...
Yue Jing Heng +3 more
wiley +1 more source