Results 291 to 300 of about 2,239,923 (360)

Novel In‐Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4‐Aminopyridine

open access: yesMovement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 27A (SCA27A) is a rare neurodegenerative disorder characterized by childhood‐onset tremor and progressive cerebellar dysfunction. SCA27A is usually caused by loss‐of‐function FGF14 variants. Objectives We report the identification of a novel FGF14 variant in a five‐generation family with autosomal dominant ...
Ignacio J. Keller Sarmiento   +6 more
wiley   +1 more source

Molecular‐Informed Network Analysis Unveils Fatigue‐Related Functional Connectivity in Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Fatigue in Parkinson's disease (PD) is a prevalent and debilitating non‐motor symptom. Despite its significant impact on quality of life, the underlying neurochemical and network‐based mechanisms remain poorly understood. Objectives This observational study applied a multimodal imaging approach to explore potential links between the
Ilaria Antonella Di Vico   +14 more
wiley   +1 more source

Recent Developments in the Optical Control of Adrenergic Signaling

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT Adrenoceptors (ARs) play a vital role in various physiological processes and are key therapeutic targets. The advent of optical control techniques, including optogenetics and photopharmacology, offers the potential to modulate AR signaling with precise temporal and spatial resolution. In this review, we summarize the latest advancements in the
Shuang Shi   +4 more
wiley   +1 more source

CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus‐Ataxia, and Sensorimotor Neuropathy

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Rossella Bove   +11 more
wiley   +1 more source

Home - About - Disclaimer - Privacy