Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Fingerspelling as a pathway to deaf children's reading: a scoping review. [PDF]
Schönström K, Holmström I.
europepmc +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
The role of pragmatic mechanisms in referential communication and categorization: An emergent communication model. [PDF]
Kobrock K, Ohmer X, Bruni E, Gotzner N.
europepmc +1 more source
Objective To explore whether higher body fat and lower lean mass are associated with greater pain and worse patient‐reported physical function in individuals with hip osteoarthritis (OA). A secondary aim was to examine whether pain and patient‐reported physical function differ according to four body composition profiles: high body fat, low lean mass ...
Alexandra Ryan +10 more
wiley +1 more source
A stylometric machine learning framework for authorship attribution of ChatGPT and student generated texts. [PDF]
P M, Arulanandam A.
europepmc +1 more source
Objective To evaluate how modifiable psychosocial factors and fatigue relate to physical functioning in patients with systemic lupus erythematosus (SLE). Methods In this cross‐sectional study of two demographically distinct cohorts (Approaches to Positive, Patient‐Centered Experiences of Aging with Lupus [APPEAL] and California Lupus Epidemiology Study
Mrinalini Dey +8 more
wiley +1 more source
Author stance and engagement in research articles on educational equity: A comparison between Chinese and Australian authors. [PDF]
Li C, Wei R.
europepmc +1 more source
From grammar to sustainability: A corpus-informed pedagogical model (GSIC) based on African Leaders' UNGA-2025 English speeches. [PDF]
Lasekan OA, Godoy Pena MT, Mathew BS.
europepmc +1 more source
Freud and collocation: a psychodynamic interpretation of '<i>make</i>' and '<i>do</i>' in English. [PDF]
Al-Jarrah R +3 more
europepmc +1 more source

