Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
The effect of Alzheimer's biomarker positivity on neuropsychological networks. [PDF]
Wright LM, De Marco M, Ferguson CE.
europepmc +1 more source
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Portable Raspberry Pi Platform for Automated Interpretation of Lateral Flow Strip Tests. [PDF]
Nakou N, Tsikas PK, Kalogianni DP.
europepmc +1 more source
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
Tracking karyotype dynamics by flow cytometry reveals de novo chromosome duplications in laboratory cultures of Macrostomum lignano. [PDF]
Mouton S, Glazenburg L, Berezikov E.
europepmc +1 more source
Preliminary quantitative and qualitative evaluation of contrast-enhanced ultrasonography (CEUS) in normal proliferative endometrium of infertile patients. [PDF]
Hong X +7 more
europepmc +1 more source
Corilagin induces pyroptosis in AML cells by activating the TXNIP-caspase-3-GSDME pathway. [PDF]
Feng G +17 more
europepmc +1 more source
Easy-to-use background score for routine prostate MRI. [PDF]
Reischauer C +7 more
europepmc +1 more source
The Association Between Race/Ethnicity and Risk of Type 2 Diabetes in Women Varies by BMI: A Pooled Analysis of Individual Data From 15 Cohort Studies. [PDF]
Nagai K +17 more
europepmc +1 more source

