Results 81 to 90 of about 5,461 (178)

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

open access: yesAnnals of Neurology, Volume 100, Issue 1, Page 154-170, July 2026.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral   +52 more
wiley   +1 more source

WRITER'S CRAMP: A HISTORICAL REVIEW

open access: yesСеченовский вестник, 2012
This paper is a review of researches on the mechanisms of hand muscle dystonia the example of which is writer's cramp (WC). WC is a movement disorder — specific kind of dystonia characterized by excessive involuntary muscle contractions, which lead to ...
O. A. Shavlovskaya
doaj  

Aberrant oscillatory activity during simple movement in task-specific focal hand dystonia (tspFHD)

open access: yesFrontiers in Neurology, 2012
In task-specific focal hand dystonia (tspFHD), the temporal dynamics of cortical activity in the motor system and how these processes are related to impairments in sensory and motor function are poorly understood.
Leighton B Hinkley   +5 more
doaj   +1 more source

Effects of Deep Brain Stimulation on Adductor Laryngeal Dystonia

open access: yesThe Laryngoscope, Volume 136, Issue 7, Page 3085-3096, July 2026.
This study evaluated how globus pallidus interna (GPi) versus ventral intermediate nucleus (VIM) deep brain stimulation (DBS) affects objective voice measures in patients with adductor laryngeal dystonia. GPi‐DBS was associated with greater improvements in voicing, voice breaks, and intensity modulation, while VIM‐DBS showed greater improvement in ...
Rita R. Patel   +11 more
wiley   +1 more source

Returning to Marathons: Complete Restoration of Exercise with Runner's Dystonia After Globus Pallidus Internus Deep Brain Stimulation

open access: yes
Movement Disorders, EarlyView.
Arthur Thevathasan   +3 more
wiley   +1 more source

Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This work demonstrates how recognition of body region dysmorphology patterns improves prediction of genetic disorders causing congenital heart disease (CHD). Findings highlight possible abnormal developmental pathways underlying CHD types and craniofacial development.
Benjamin M. Helm   +3 more
wiley   +1 more source

Laminar VASO fMRI in focal hand dystonia patients. [PDF]

open access: yesDystonia, 2023
Huber L   +4 more
europepmc   +1 more source

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia‐Telangiectasia: A Systematic Review

open access: yesEuropean Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino   +6 more
wiley   +1 more source

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