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
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
Gull-wing Stacked Profunda Artery Perforator Flap for Unilateral Breast Reconstruction. [PDF]
Plast Reconstr Surg Glob OpenMatsumine H, Niimi Y, Sakurai H.
europepmc +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Detection of Antibodies Specific to H5 Avian Influenza Virus in a Sheep in Norway, June 2024, 11 Months After an Outbreak of Highly Pathogenic Avian Influenza in a Nearby Seabird Colony. [PDF]
Influenza Other Respir VirusesFosse JH +6 more
europepmc +1 more source
Validation of the ICO-OCEX tool for competency-based assessment in ophthalmology residency programs. [PDF]
BMC Med EducGull A +4 more
europepmc +1 more source
Evaluation of <i>Escherichia coli</i> drug resistance of relict gull (<i>Larus relictus</i>) in Hongjian Nur, Shaanxi, China. [PDF]
Front Vet SciHe A +6 more
europepmc +1 more source
Letter to editor in response to "Clinical features of overt versus diagnosed pre-existing diabetes in pregnancy". [PDF]
J Diabetes InvestigMemon A, Gull Z.
europepmc +1 more source
Balancing sample sizes in parasitology: A standardized experimental infection method using faecal parasite eggs and aquatic intermediate hosts. [PDF]
Curr Res Parasitol Vector Borne DisRodríguez SM +4 more
europepmc +1 more source