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
Geographic Disparities in Oral Health Among Schoolchildren in Damascus, Syria, During the Prolonged Crisis: A Cross-Sectional Study. [PDF]
CureusAshour A, Dashash M.
europepmc +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Description of a new species of <i>Cyrtodactylus</i> Gray, 1827 (Reptilia, Gekkonidae) from India with redescriptions of the holotypes of <i>C. gubernatoris</i> (Annandale, 1913) and <i>C. himalayicus</i> (Annandale, 1906). [PDF]
ZookeysRay S +4 more
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
Public health surveillance: characterizing the Covid 19 pandemic in the Monze district, Zambia. [PDF]
BMC Infect DisNsemani W +9 more
europepmc +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
Evaluation of measles outbreak response in Geze Gofa district, South Ethiopia region, using the 7-1-7 timeliness metrics. [PDF]
BMC Infect DisFekadu L +6 more
europepmc +1 more source
Conflict-Related Disruption of Maternal Health Services: A Case Report of Maternal Death in Transit Due to Obstructed Labour in Somalia. [PDF]
Int Med Case Rep JHassan AM, Hussein AM.
europepmc +1 more source
Erratum to "Long non-coding RNAs as modulators of metabolic reprogramming for endogenous heart regeneration: Mechanisms and therapeutic potential" [Biomed J 49 (2) (2026) 100914]. [PDF]
Biomed JWu X, Lv Y, Li Z, Yang Z.
europepmc +1 more source