ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Identification, validation, and prediction of longitudinal recovery phenotypes in degenerative cervical myelopathy: analysis of prospective cohorts and a randomised controlled trial. [PDF]
Pedro KM +12 more
europepmc +1 more source
Neurological Diseases: Implications in Medical and Dental Practices
Neurological and neurodegenerative diseases have a significant impact on a patient's functionality, independence, and overall quality of life. Multidisciplinary clinical care, coordination, and treatment modifications are key to increasing survival rates
Ariana, Armin
core
Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird +9 more
wiley +1 more source
Feto-Maternal Microchimerism and the Brain: Mechanisms, Neurological Implications, and Translational Perspectives. [PDF]
Abey NO.
europepmc +1 more source
Preface: Zebrafish Models of Neurology
openaire +2 more sources
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe +7 more
wiley +1 more source
Effects of electroacupuncture on neurological outcomes and brain-gut axis-associated changes in experimental ischemic stroke models: a systematic review and meta-analysis. [PDF]
Chen Y, Zhu T, Li M, Tan T, Cui J.
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source

