Results 131 to 140 of about 1,011,375 (291)
Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate +34 more
wiley +1 more source
The petrotympanic canal (Huguier canal): Evolutionary, anatomical, and medical perspectives
The Anatomical Record, EarlyView.Abstract The petrotympanic canal, traditionally referred to as Civinini's or Huguier's canal, represents an anatomical passage connecting the middle ear and temporomandibular joint (TMJ). Despite its early description, its structural complexity and functional significance have often been underestimated. In this study, we combined historical, anatomical,
Andrea Papini +8 more
wiley +1 more source
, 1992 The Communication Strategies scale of the Communication Profile for the Hearing Impaired (CPHI) was translated into Swedish and used in several studies of people with hearing impairment (Hallberg & Carlsson, in press; Hallberg, Erlandsson, & Carlsson ...
Carlsson, Sven G., +2 more
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The Anatomical Record, EarlyView.Abstract All infant mammals must suckle in order to effectively acquire milk from a nipple. Yet, not all infants are able to do so. Preterm infants in particular face significant feeding challenges, often failing to establish successful breastfeeding due to complex neurophysiologic challenges.
Max Sarmet +9 more
wiley +1 more source
Moving beyond neurophobia to cultivate the neuroquisitive learner
Anatomical Sciences Education, EarlyView.Abstract “Neurophobia,” a pervasive fear of the neurological sciences, poses a significant barrier in medical education, affecting learners and physicians worldwide. Its consequences are far‐reaching, contributing to a limited neurology workforce and diminished confidence among non‐specialists in managing neurological conditions.
Joanna R. Appel +1 more
wiley +1 more source
Autism Research, EarlyView.ABSTRACT Autism exhibits substantial phenotypic heterogeneity, yet age‐dependent variation in phenotypic profiles and onset timing remains poorly understood. We aimed to characterize stage‐specific phenotypes and temporal onset patterns of autism using longitudinal electronic health records (EHRs).
Fangyi Chen +9 more
wiley +1 more source
An ETH‐LAD trip with unfavourable consequences: A case report
British Journal of Clinical Pharmacology, EarlyView.Numerous analogues of the psychedelic and internationally controlled hallucinogen LSD have been described; however, only a limited number have been systematically investigated. This report presents the first case with an analytically confirmed ingestion of ETH‐LAD (6‐ethyl‐6‐nor‐lysergic acid diethylamide), the N‐ethyl derivative of LSD.
Johannes Nadler +6 more
wiley +1 more source
British Educational Research Journal, EarlyView.Abstract All children should have access to quality education through a child‐centred pedagogy. An inclusive, child‐centred pedagogy uses a strength‐based view of children that recognises each child as unique and competent, providing children with multiple opportunities to explore and learn at their own pace.
Katherine Gulliver
wiley +1 more source
British Educational Research Journal, EarlyView.Abstract The growing concern about demand for, and provision of, support for children and young people with special educational needs and disabilities (SEND) has led the English government to announce a review of the system, which many describe as being in crisis.
Ariadna Albajara Sáenz +5 more
wiley +1 more source