Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Record linkage in public health datasets: a practical experience in a fast in-process analytical database. [PDF]
Tassinari W +7 more
europepmc +1 more source
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye +11 more
wiley +1 more source
Mediating role of psychological distress and alcohol use in socioeconomic disparities in deaths of despair: a causal mediation analysis using record linkage data. [PDF]
Lasserre AM +5 more
europepmc +1 more source
Vulnerability-Aware Hardening for Secure Privacy-Preserving Record Linkage
Sumayya Ziyad +4 more
openalex +1 more source
Second Primary Tumors Following Thyroid Cancer a Swedish Record-Linkage Study [PDF]
Per Hall, Lotte Holm, G. E. F. Lundell
openalex +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
Record linkage without patient identifiers: Proof of concept using data from South Africa's national HIV program. [PDF]
Shumba K +9 more
europepmc +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source

