Results 111 to 120 of about 219,778 (217)
Annals of Clinical and Translational Neurology, EarlyView.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
Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.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
Intensive Family-Centered Rehabilitation and Motor Outcomes in a Child with Global Developmental Delay: A Case Report. [PDF]
Children (Basel)Erceg J +4 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.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
Factors associated with cognitive developmental delay risk in 12-month-old infants. [PDF]
Front PediatrZhang Y +5 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.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
1q25.3-q32.1 deletion causing multisystem developmental delay: a case report and literature review. [PDF]
Front PediatrLiu L, Yu R, Zhang W, Huang S, Huang T.
europepmc +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Visual Rehabilitation for Kindergarten Children with Developmental Delay: Case Series. [PDF]
Children (Basel)Sheu MM +4 more
europepmc +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