Practice Recommendations for Genetic Testing of Ataxias
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
The Relevance of the Reviewer’s Role: a Methodological Proposal for the Development of the Translation Competence [PDF]
Conforme a autores como Silvia Parra (2005: 370), el encargo de traducción puede definirse como el “conjunto de especificaciones, explícitas o implícitas, que guía tanto el trabajo del traductor como el del revisor”. De las palabras de Parra se desprende
Mendoza García, Francisco Javier +1 more
core
Revised Formulation for the Refractive Index of Water and Steam as a Function of Wavelength, Temperature and Density [PDF]
Allan H. Harvey +2 more
openalex +1 more source
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
Do we assess all relevant behaviours in children with cognitive impairments using the revised Face, Leg, Cry, Consolability (r-FLACC) Scale? – A Qualitative Study [PDF]
Brigitte Messerer +3 more
openalex +1 more source
NR4A1 Exerts Pro‐Tumor Role in Glioblastoma via Inducing xCT/GPX4‐Regulated Ferroptosis
ABSTRACT Purpose This study investigates NR4A1's paradoxical roles in glioblastoma (GBM) progression, focusing on its mechanistic link to ferroptosis regulation. We aimed to resolve conflicting reports of NR4A1 as both an oncogene and a tumor suppressor by defining its transcriptional control over xCT/GPX4‐mediated iron homeostasis and its clinical ...
Peng Tao +10 more
wiley +1 more source
Pre‐Diagnostic Features of Multiple Sclerosis in a Diverse UK Cohort: A Nested Case–Control Study
ABSTRACT Background Many patients with Multiple Sclerosis (MS) experience nonspecific symptoms prior to diagnosis. This period—the 'MS prodrome'—has been described in socio‐economically homogeneous cohorts to date. It remains unclear to what extent events prior to an MS diagnosis differ according to social determinants of health. Methods We conducted a
Pooja Tank +3 more
wiley +1 more source
[Evidence of effectiveness of hospital transition care in the elderly: rapid systematic reviewEvidencia de la eficacia de la atención transitoria prestada a las personas mayores después de la hospitalización: revisión sistemática rápida]. [PDF]
Uchimura LYT +5 more
europepmc +1 more source
Revising the Multipole Moments of Numerical Spacetimes and its Consequences [PDF]
George Pappas, Theocharis A. Apostolatos
openalex +1 more source

