Results 151 to 160 of about 12,196 (247)

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci   +10 more
wiley   +1 more source

Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)

open access: yesMovement Disorders Clinical Practice, EarlyView.
Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle   +31 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño   +6 more
wiley   +1 more source

Placebo Effect in Levodopa‐Induced Dyskinesia: A Systematic Review and Meta‐Analysis

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Levodopa‐induced dyskinesia (LID) is a complication of Parkinson's disease (PD) treatment. While the placebo effect is a known component in PD clinical trials, its specific magnitude in the context of LID is not well characterized.
Luiz Vinicius Silva Correa   +5 more
wiley   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini   +5 more
wiley   +1 more source

Cognitive, Motor and Oculomotor Contributions to the Trail Making Test in Progressive Supranuclear Palsy

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by motor, oculomotor and cognitive impairments. Yet disentangling cognitive deficits from motor and oculomotor dysfunction remains a diagnostic and methodological challenge.
Indira Garcia‐Cordero   +12 more
wiley   +1 more source

Apathy in Parkinson's Disease: Distinguishing Overlapping Symptoms Via Network Analysis

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Anxiety, fatigue, and excessive daytime sleepiness (EDS) frequently co‐occur in Parkinson's disease (PD) and can influence the clinical determination of apathy. Objective To distinguish patient‐reported apathy from other non‐motor symptoms.
Joseph Seemiller   +6 more
wiley   +1 more source

Expanding the Phenotype of PARK‐PRKN to Spastic Paraplegia: A Report of Two Cases

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Nicolas Geoffre   +5 more
wiley   +1 more source

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

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

open access: yesMovement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik   +5 more
wiley   +1 more source

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