BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
HESI workshop summary: Interpretation of developmental and reproductive toxicity endpoints and the impact on data interpretation of adverse events. [PDF]
Green ML+11 more
europepmc +1 more source
ABSTRACT Objective The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...
Ludwig Kappos+11 more
wiley +1 more source
Interpretation of Diffusion Susceptibility Data Obtained with 50-μg Carbenicillin Discs Against Gram-Negative Organisms [PDF]
Walter H. Traub, Ella A. Raymond
openalex +1 more source
ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee+26 more
wiley +1 more source
An end-to-end approach for single-cell infrared absorption spectroscopy of bacterial inclusion bodies: from AFM-IR measurement to data interpretation of large sample sets. [PDF]
Duverger W+6 more
europepmc +1 more source
Use of Multiple Ion Fragmentation Methods to Identify Protein Cross-Links and Facilitate Comparison of Data Interpretation Algorithms. [PDF]
Zhao B+4 more
europepmc +1 more source
Multispectral Data Interpretation for Engineering Soils Mapping : Technical Paper
Marc Tanguay
openalex +2 more sources
Time‐Frequency Fingerprint Analysis in SEEG Source‐Space to Identify the Epileptogenic Zone
ABSTRACT This case study highlights the application of seizure fingerprint analysis in the source‐space of stereo‐EEG (SEEG) data to accurately localize the epileptogenic zone (EZ) in patients with complex cortical malformations. A 25‐year‐old female with extensive bilateral perisylvian polymicrogyria (PMG) presented with intractable focal seizures ...
Yash Shashank Vakilna+10 more
wiley +1 more source
Thirty-Day Mortality After Curative and Palliative Anti-Cancer Treatment: Data Interpretation and Lessons for Clinical Implementation. [PDF]
Tashkandi E+9 more
europepmc +1 more source