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
Knowledge, Practice, and Health System Challenges in the Management of Pre-Eclampsia: A Cross-Sectional Study of Midwives at Princess Christian Maternity Hospital. [PDF]
Torto AG +11 more
europepmc +1 more source
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon +9 more
wiley +1 more source
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera +20 more
wiley +1 more source
Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report. [PDF]
Zhang R +5 more
europepmc +1 more source
Predictive Value of Composite Inflammatory Markers for Stroke Prognosis: A Prospective Cohort Study
ABSTRACT Background Novel composite inflammatory markers' role in stroke prognosis is understudied, and the best predictor is unclear, requiring further exploration. Objectives This study aimed to systematically evaluate the associations of 6 novel composite inflammatory markers on stroke prognosis.
Bing Wu +7 more
wiley +1 more source
Aged female and male C57BL/6J mice have reduced alcohol self-administration and altered acute alcohol withdrawal compared to younger animals. [PDF]
Matthews DB +6 more
europepmc +1 more source
Corpus Callosotomy in LIS1 Lissencephaly: Postoperative Ketogenic Diet-Related Metabolic Derangements and Feeding Intolerance. [PDF]
Jalal A +5 more
europepmc +1 more source
Flexible and Interpretable Modeling of Overlapping Exposure Risks in Self-Controlled Case Series Analysis. [PDF]
Zhang X, Milligan P, Cheung YB.
europepmc +1 more source
Peripheral nervous system involvement accompanies central nervous system involvement in anti-N-methyl-D-aspartate receptor encephalitis. [PDF]
Wang W +9 more
europepmc +1 more source

