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
Characterizing the Heartbeat-Evoked Potential: A Two-Component Model of Cardiac Signal Processing? [PDF]
Gautier R, Latinus M, Briend F.
europepmc +1 more source
Reproducible safety and efficacy of durvalumab with or without tremelimumab for hepatocellular carcinoma in clinical practice: results of the DT-real study [PDF]
Ciro Celsa +40 more
openalex +1 more source
Cancer reproducibility project yields first results [PDF]
openaire +2 more sources
Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Reproducibility of Metabolic Mapping Using 2D Multi-Slice Short-TE and GABA-Edited Spin-Echo MRSI at 3T in a Single Protocol. [PDF]
Zöllner HJ +6 more
europepmc +1 more source
Reproducibility of Proprioceptive Performance in Institutionalized Older Adults Using a Smartphone-Based Joint Position Sense Test. [PDF]
Caña-Pino A, Marín-Rubio A.
europepmc +1 more source

