Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
CRUSH-Cleavage Rules Using SMIRKS Heuristics: an enhanced molecular fragmentation algorithm. [PDF]
López-López E +2 more
europepmc +1 more source
Objective Mycophenolate mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon because of the lower fibrotic burden and the predominance of vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis +77 more
wiley +1 more source
Separation of sulfated fucose-containing isomers found in polysaccharides from brown seaweed using cyclic ion mobility mass spectrometry. [PDF]
Wyper OM, Jobst KJ, Kerton FM.
europepmc +1 more source
Addressing Economic Insecurities Can Improve Patient‐Reported Outcomes in Lupus
Objective Economic insecurities, such as food, housing, transportation, and financial challenges, are modifiable risk factors and influence patient‐reported outcomes (PROs) in systemic lupus erythematosus (SLE). We examined the following: (1) associations between economic insecurities and PROs, and (2) the impact of screening and addressing economic ...
Jay Patel +8 more
wiley +1 more source
Reflections on Healthcare Leadership in KwaZulu-Natal, South Africa During the COVID-19 Pandemic: Implications for Crisis Leadership Development and Implementation. [PDF]
Ramklass SS.
europepmc +1 more source
What Do Large Language Models Know About Materials?
If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer +2 more
wiley +1 more source
Rethinking Human Resources for Health Planning in Labour Markets Disrupted by Conflict-Affected and Fragile Settings Comment on "Human Resources for Health in Conflict Affected Settings: A Scoping Review of Primary Peer Reviewed Publications 2016-2022". [PDF]
Aziz R.
europepmc +1 more source
Low‐cycle fatigue damage in Mn–Mo–Ni reactor pressure vessel steel is examined using a combined electron backscatter diffraction and positron annihilation lifetime spectroscopy approach. The study correlates texture evolution, dislocation substructure development, and vacancy‐type defect formation across uniform, necked, and fracture regions, providing
Apu Sarkar +2 more
wiley +1 more source
Elevating the allied health professions workforce: leadership's role in shaping professional identity. [PDF]
Hales P, Achour N, King O, Engward H.
europepmc +1 more source

