Disease Progression in Multiple System Atrophy: The ASPIRE Multi‐Modal Biomarker Study
Objective The objective of this study was to characterize changes in candidate biomarkers in early multiple system atrophy (MSA) and identify baseline predictors of faster progression. Methods This 1‐year, multicenter, prospective study assessed clinical, neuroimaging (3T‐magnetic resonance imaging [MRI], dopamine transporter single‐photon emission ...
Margherita Fabbri +26 more
wiley +1 more source
If You Just Add the Right Cells, You Could Prevent Seizures. [PDF]
Goodman JH.
europepmc +1 more source
Clinical profile of children with epilepsy: a cross-sectional study
P. Jagadeesan, R. Malai Arasu
openalex +2 more sources
Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek +7 more
wiley +1 more source
Modulation of Gut Microbiome and Metabolome as One of the Potential Mechanisms of Ketogenic Diet Effect in the Treatment of Epilepsy. [PDF]
Kowalcze K +4 more
europepmc +1 more source
Pathogenic variants at the N-terminal arginine residue 44 disrupt human GABA transporter 1 function: insights from Drosophila epilepsy models [PDF]
Nikita Shah +10 more
openalex +1 more source
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji +10 more
wiley +1 more source
Dietary vitamin B9 intake linked to drug-resistant epilepsy risk in western Chinese adults: exploring underlying metabolomic mechanisms. [PDF]
Zhang L, Liu L.
europepmc +1 more source
Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders
Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall +6 more
wiley +1 more source

