Results 201 to 210 of about 34,989 (298)

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

open access: yesMovement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot   +22 more
wiley   +1 more source

Perspective: Depression in Persons with Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Depression is a prevalent and disabling syndrome characterized by sustained sadness and/or anhedonia, as well as cognitive and physical symptoms. In Parkinson's disease (PD), depression is both common and clinically challenging due to overlapping symptoms and complex etiologic interactions. Major depressive disorder occurs in approximately 17%
Albert F.G. Leentjens   +1 more
wiley   +1 more source

Accelerated Split‐Belt Gait Adaptation in Patients with Functional Tremor: Clues to a Generalized Precipitating Trait?

open access: yesMovement Disorders, EarlyView.
Abstract Background Functional neurological disorders (FNDs) are common, disabling conditions that are genuinely experienced and arise from functional rather than structural abnormalities. Although theoretical frameworks implicate aberrant integration of prior expectations and sensory input, empirical evidence is limited, and it remains unclear whether
Jorik Nonnekes   +4 more
wiley   +1 more source

Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements

open access: yesMovement Disorders, EarlyView.
Resting‐state fMRI and effective connectivity revealed distinct cerebellar–basal ganglia–cortical interactions in ADCY5 (MxMD‐ADCY5) and SGCE (MYC/DYT‐SGCE) related movement disorders. The cerebellum modulated cortex directly in MYC/DYT‐SGCE, but indirectly via basal ganglia‐cerebellar projections in MxMD‐ADCY5, which also showed reduced subthalamic ...
Clément Tarrano   +33 more
wiley   +1 more source

Exploring the disease burden and quality of life in patients with short bowel syndrome with intestinal failure: Insights from exit interviews in the glepaglutide EASE SBS‐1 phase 3 trial

open access: yesNutrition in Clinical Practice, EarlyView.
Abstract Background A randomized, double‐blind, placebo‐controlled trial was conducted to evaluate efficacy and safety of glepaglutide in patients who have short bowel syndrome with intestinal failure (SBS‐IF). At the end of the trial, exit interviews were conducted to explore participants' experiences and to assess the impact of the disease and ...
David F. Mercer   +5 more
wiley   +1 more source

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