Results 91 to 100 of about 7,192 (247)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez   +5 more
wiley   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li   +17 more
wiley   +1 more source

Perception of verticality in patients with developmental coordination disorder [PDF]

open access: yes, 2017
Bibliographic identification Author's first name and surname: Bc. Radim Žídek Title of the master thesis: Perception of verticality in patiens with developmental coordination disorder Department: Department of Rehabilitation and Sports Medicine, 2nd ...
Žídek, Radim
core  

Associations Between Biomarkers of Alzheimer's Disease and Sleep in Cognitively Unimpaired Older Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sleep disturbances have been implicated as a risk factor for developing Alzheimer's disease (AD), but evidence linking plasma AD biomarkers to sleep in cognitively unimpaired individuals remains limited. The present study examined associations between evening, morning, and overnight changes in plasma AD biomarkers and measures of ...
Cornelia Sauter   +5 more
wiley   +1 more source

Looking into urban toponymic verticality: An initial note

open access: yesUrban Governance
The current vertical/volumetric turn affected various academic fields, including urban scholarship. This short note broadens the critical literature by applying this emerging perspective on urban toponymic systems in the context of urban governance ...
Sergei Basik
doaj   +1 more source

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey   +52 more
wiley   +1 more source

Disentangling the Genetic Relationship Between Sleep and Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le   +9 more
wiley   +1 more source

Four‐Year Cognitive Outcomes in Multiple Sclerosis: Associations With Lesion Myelin Integrity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Cognitive impairment is prevalent in patients with multiple sclerosis (MS) but whether lesion myelin integrity influences future cognitive outcomes remains unclear. We investigated the relationship between baseline lesion myelin water fraction (MWF) and cognitive performance 4 years later.
Iliana Pliska‐Bloch   +9 more
wiley   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

open access: yesArthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo   +9 more
wiley   +1 more source

Vertical-Ordered Electrogenic Biofilms Engineered Through Substrate-Electric Field Synergy for Enhanced Microbial Fuel Cell Performance

open access: yesEnergies
Microbial fuel cell (MFC) is a novel and environmentally friendly technology for wastewater treatment and pollutant resource utilization. Although advances have been made in various aspects including electrode materials and synthetic biology approaches ...
Xinyuan He   +4 more
doaj   +1 more source

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