The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable future interventional studies. As biosample collection and processing variables significantly impact the outcomes of biomarkers studies, biosampling procedures standardisation was done previously to study visit initiation. Here, we describe the ESMI consensus biosampling protocol, developed within the scope of ESMI, that ultimately might be translated to other neurodegenerative disorders, particularly ataxias, being the first step to protocol harmonisation in the field.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10947376 | PMC |
| http://dx.doi.org/10.1111/nan.12892 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A detailed spatiotemporal atlas of the white matter tracts for the fetal brain.
Proc Natl Acad Sci U S A
January 2025
Computational Radiology Laboratory, Boston Children's Hospital, Boston, MA 02115.
This study presents the construction of a comprehensive spatiotemporal atlas of white matter tracts in the fetal brain for every gestational week between 23 and 36 wk using diffusion MRI (dMRI). Our research leverages data collected from fetal MRI scans, capturing the dynamic changes in the brain's architecture and microstructure during this critical period. The atlas includes 60 distinct white matter tracts, including commissural, projection, and association fibers.
View Article and Find Full Text PDFThe reproductive tract microbiome in women with polycystic ovary syndrome and across different menstrual cycle phases.
Hum Reprod
January 2025
Institute of Genomics, Estonian Genome Centre, University of Tartu, Tartu, Estonia.
Study Question: Do polycystic ovary syndrome (PCOS), menstrual cycle phases, and ovulatory status affect reproductive tract (RT) microbiome profiles?
Summary Answer: We identified microbial features associated with menstrual cycle phases in the upper and lower RT microbiome, but only two specific differences in the upper RT according to PCOS status.
What Is Known Already: The vaginal and uterine microbiome profiles vary throughout the menstrual cycle. Studies have reported alterations in the vaginal microbiome among women diagnosed with PCOS.
How breakthroughs happen: Unearthing the boundary conditions of eco-friendly deliberate practice and eco-innovation performance.
PLoS One
January 2025
National Business School, The University of Faisalabad, Faisalabad, Pakistan.
Surprisingly innovation process based on deliberate practice has rarely been unearthed that might explore the boundary conditions of the eco-friendly deliberate practice and eco-innovation performance relationship. Anchored on the organizational support theory and the social cognitive, the current study seeks to investigate the impacts of perceived organizational support (POS) and developmental leadership (DL) on eco-innovation performance (EP) through the mediating role of eco-friendly deliberate practice (EDP). In addition, the study explores the boundary effects of employee resilience (ER) on the relationship between EDP and EP.
View Article and Find Full Text PDFThings Latinas need to plan for safety: A dual-site concept mapping study.
PLoS One
January 2025
MAP Centre for Urban Health Solutions, St. Michael's Hospital Toronto, Toronto, Ontario, Canada.
Background: Latina women in the United States experience intimate partner violence (IPV) at high rates, but evidence suggests Latinas seek help for IPV at lower rates than other communities. Safety planning is an approach that provides those experiencing IPV with concrete actions to increase their safety and referrals to formal services. While safety planning is shown to reduce future incidences of violence, little is known about the safety planning priorities of Latinas.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!