ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. [PDF]
Neurol SciErrichiello G +10 more
europepmc +1 more source
Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam +4 more
wiley +1 more source
Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification. [PDF]
Front GenetLiang F +10 more
europepmc +1 more source
Botulinum toxin use in patients with neurological disorders: A U.S.‐based claims database analysis
PM&R, EarlyView.Abstract Background and Objective Real‐world evidence describing long‐term persistency with botulinum toxin (BoNT) therapy is limited. We assessed treatment patterns and persistency with BoNT in clinical practice over 2 years. Design Retrospective, longitudinal, claims database analysis. Setting Medical claims data from the Merative MarketScan database
David M. Simpson +4 more
wiley +1 more source
Altered central vestibular processing in Parkinson's disease with Pisa syndrome. [PDF]
Sci RepBest C +5 more
europepmc +1 more source
Polypharmacy among adolescents and adults with cerebral palsy in a clinical setting
PM&R, EarlyView.Abstract Background Adolescents and adults with cerebral palsy often experience multimorbidity related to their condition, which primarily affects movement and posture but is also associated with pain, epilepsy, mood disorders, and other conditions. As such, these patients are often prescribed a range of medications to manage symptoms, thereby putting ...
Caitlin Cassidy +3 more
wiley +1 more source
Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations. [PDF]
BMC Med GenomicsLince-Rivera I +4 more
europepmc +1 more source
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.Acute hypothalamic–pituitary–ovarian axis suppression is common in anti‐NMDAR encephalitis, yet ovarian function and fertility recover favorably even in teratoma‐associated cases, supporting reassuring long‐term reproductive prognoses. Abstract Introduction Anti‐N‐methyl‐D‐aspartate receptor (anti‐NMDAR) encephalitis predominantly affects women of ...
Jia Wang +4 more
wiley +1 more source
Shared and distinct dynamic brain activity and functional connectivity variability in patients with isolated craniocervical dystonia. [PDF]
Brain CommunLin J +11 more
europepmc +1 more source
Dualsteric and dual‐acting modulation of muscarinic receptors by antagonist KH‐5
British Journal of Pharmacology, EarlyView.Abstract Background and purpose Muscarinic acetylcholine receptors are key therapeutic targets, and ligands engaging both orthosteric and allosteric sites may offer improved selectivity and efficacy. Here, we investigated whether the muscarinic antagonist KH‐5 acts as a dualsteric antagonist and defined its mode of interaction with muscarinic receptors.
Alena Janoušková‐Randáková +3 more
wiley +1 more source