KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini +24 more
wiley +1 more source
GlycoSuiteDB: a new curated relational database of glycoprotein glycan structures and their biological sources [PDF]
, 2001 Catherine A. Cooper
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CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu +12 more
wiley +1 more source
Saving the Past from the Future: Archaeological Curation in the St. Louis District [PDF]
, 2001 Michael K. Trimble, Thomas B. Meyers
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Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
<title>Online scientific data curation, publication, and archiving</title> [PDF]
, 2002 Jim Gray +4 more
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EEG Response to Sedation Interruption Complements Behavioral Assessment After Severe Brain Injury
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Accurate assessment of the level of consciousness and potential to recover in patients with severe brain injury underpins crucial decisions in the intensive care unit but remains a major challenge for the clinical team. The neurological wake‐up test is a widely used assessment tool. However, many patients' behavioral responses during
Charlotte Maschke +12 more
wiley +1 more source
Inventer des « dispositifs génératifs » à la croisée de l’ethnographie et du design
Ateliers d'AnthropologieIn the form of a dialogue, this article looks back at a collaboration between ethnography and design. As part of an ongoing study on the practices of the Vieux Marché in Brussels, Virginie Milliot and Léna organised the “Histoires de Brol” festival. They
Virginie Milliot, Léna Paté
doaj +1 more source
SARS‐CoV‐2 Is Linked to Brain Volume Loss in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The impact of SARS‐CoV‐2 infection on brain and spinal cord pathology in patients with multiple sclerosis (pwMS) remains unclear. We aimed to describe changes in brain lesion activity and brain and spinal cord volumes following SARS‐CoV‐2 infection.
Tomas Uher +12 more
wiley +1 more source
GlycoSuiteDB: a curated relational database of glycoprotein glycan structures and their biological sources. 2003 update [PDF]
, 2003 Catherine A. Cooper
openalex +1 more source