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
Adherence to dietary and physical activity guidelines and influencing factors among pregnant women: a cross-sectional study in China. [PDF]
Hou W +6 more
europepmc +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
Network ontology transcript annotation identifies genetic signals underlying sex determination. [PDF]
Orozco LR +13 more
europepmc +1 more source
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau +11 more
wiley +1 more source
Evaluating resilience levels and their association with spiritual health and other factors among university students from South Korea and Japan; a comparative cross-sectional study. [PDF]
Taimur H +6 more
europepmc +1 more source
Children's views of obesity, body size and weight: systematic review of UK qualitative evidence. [PDF]
Lorenc T +5 more
europepmc +1 more source
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu +7 more
wiley +1 more source
The skinny on 'keto': the low-carb, high-fat diet everyone is talking about. [PDF]
Ch'ng WXM, Ng MCW.
europepmc +1 more source
The Case of a 40‐Year‐Old Man With New‐Onset Status Epilepticus in the Setting of HIV Infection
ABSTRACT A 40‐year‐old man from Andhra Pradesh in India, while on regular antiretroviral treatment (ART) for long‐standing HIV infection presented with a 1‐day history of new‐onset status epilepticus. CT and MRI brain showed multifocal cerebral ring lesions, some of which demonstrated characteristic ‘hole‐with‐a‐dot’ sign.
Vadde Akhil, Ramachandiran Nandhagopal
wiley +1 more source

