Update on the molecular aspects and methods underlying the complex architecture of FSHD
V Caputo, D Megalizzi, C Fabrizio, A Termine… - Cells, 2022 - mdpi.com
Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular
dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease …
dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease …
Scoping review of the recommendations and guidance for improving the quality of rare disease registries
Abstract Background Rare disease registries (RDRs) are valuable tools for improving
clinical care and advancing research. However, they often vary qualitatively, structurally, and …
clinical care and advancing research. However, they often vary qualitatively, structurally, and …
A big data platform exploiting auditable tokenization to promote good practices inside local energy communities
Abstract The Energy Community Platform (ECP) is a modular system conceived to promote a
conscious use of energy by the users inside local energy communities. It is composed of two …
conscious use of energy by the users inside local energy communities. It is composed of two …
A systematic review of telemedicine for neuromuscular diseases: components and determinants of practice
D Senyel, K Senn, J Boyd, K Nagels - BMC Digital Health, 2024 - Springer
Abstract Introduction Neuromuscular diseases (NMDs) entail a group of mostly inherited
genetic disorders with heterogeneous phenotypes impacting muscles, the central or …
genetic disorders with heterogeneous phenotypes impacting muscles, the central or …
Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation
MM McNiff, S Hawkins, B Haase… - Journal of …, 2024 - content.iospress.com
Background: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder
characterized by progressive muscle weakness leading to permanent disability. There are …
characterized by progressive muscle weakness leading to permanent disability. There are …
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy
C Bettio, F Banchelli, V Salsi, R Vicini… - BMC Musculoskeletal …, 2024 - Springer
Background In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether
physical activity (PA) practiced at young age is associated with the clinical presentation of …
physical activity (PA) practiced at young age is associated with the clinical presentation of …
A novel framework for remote management of social media big data analytics
AM Al-Shomar, M Al-Qurish, W Aljedaani - Social Network Analysis and …, 2022 - Springer
With the rapid expansion of social media users and the ever-increasing data exchange
between them, the era of big data has arrived. Integration of big data generates enormous …
between them, the era of big data has arrived. Integration of big data generates enormous …
Cloud-based digital healthcare development for precision medical hospital information system
Aim: This study aims to develop a cloud-based digital healthcare system for precision
medical hospital information systems (P-HIS). Methods: In 2020, international …
medical hospital information systems (P-HIS). Methods: In 2020, international …
A human pan-genomic analysis provides insights into the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is the only human disease associated
with epigenetic changes at a macrosatellite array. Almost 95% of FSHD cases carry a …
with epigenetic changes at a macrosatellite array. Almost 95% of FSHD cases carry a …
Big Data Integration & Data-Centric AI for eHealth
D Beneventano, S Bergamaschi… - … Nazionale CINI sull' …, 2022 - iris.unimore.it
La big data integration, ovvero l'integrazione di grandi quantità di dati provenienti da
molteplici sorgenti, rappresenta una delle principali sfide per l'impiego di tecniche e …
molteplici sorgenti, rappresenta una delle principali sfide per l'impiego di tecniche e …