Results 131 to 140 of about 713,409 (294)

The Associations Between Chronic Active Lesions and White Matter Disease: A 7 Tesla Imaging Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The relationship between paramagnetic rim lesions (PRLs) and surrounding normally appearing white matter (NAWM) disease, potentially contributory to the associations seen between PRLs and clinical impairment, is underexplored. Objectives To assess whether PRLs correlate with a greater degree of NAWM injury in early MS.
Ellie McCluey   +17 more
wiley   +1 more source

Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan   +46 more
wiley   +1 more source

Practice Recommendations for Genetic Testing of Ataxias

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan   +7 more
wiley   +1 more source

Genetic diversity and selective breeding of red common carps in China [PDF]

open access: yes, 2001
China has a very rich genetic diversity in common carp (Cyprinus carpio) and the red common carp plays an important role in Chinese aquaculture and genetic studies.
Li, S.F., Wang, C.H.
core  

Cognitive Impairment in Multiple Sclerosis: The Role of Clinical and Sociodemographic Factors ‐ A Systematic Review and Meta‐Analysis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment (CI) affects the quality of life in multiple sclerosis (MS). Identifying influencing factors is key to improving CI monitoring. This systematic review and meta‐analysis examines clinical and sociodemographic variables impacting the cognitive screening Symbol Digit Modalities Test (SDMT) performance across MS ...
Katalin Lugosi   +8 more
wiley   +1 more source

PAGER: A novel genotype encoding strategy for modeling deviations from additivity in complex trait association studies

open access: yesBioData Mining
Background The additive model of inheritance assumes that heterozygotes (Aa) are exactly intermediate in respect to homozygotes (AA and aa). While this model is commonly used in single-locus genetic association studies, significant deviations from ...
Philip J. Freda   +9 more
doaj   +1 more source

Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague   +8 more
wiley   +1 more source

Exploring Nasal Structural‐Microbial Interactions in Multiple Sclerosis‐Associated Olfactory Impairment

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Olfactory dysfunction is frequently observed in patients with multiple sclerosis (MS); however, its underlying mechanisms remain poorly understood. To date, no studies have directly examined the nasal mucosal microbiota in MS. This study aimed to explore potential relationships among olfactory function, nasal microbiota composition,
Zidan Gao   +5 more
wiley   +1 more source

Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients. Methods We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9 ...
Diederik J. L. Stikvoort García   +3 more
wiley   +1 more source

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