Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Advancing the frontier of rare disease modeling: a critical appraisal of in silico technologies. [PDF]
Pistollato F +7 more
europepmc +1 more source
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung +7 more
wiley +1 more source
Purification, identification, and <i>in silico</i> screening of a multifunctional octapeptide from <i>semen armeniacae</i> glutelin-2 hydrolysates: restraining mechanisms to Keap1 and ACE, stability, and ferrous-transport efficiency. [PDF]
Jin Z +8 more
europepmc +1 more source
Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle +11 more
wiley +1 more source
Enzymatic Hydrolysis of Porcine Blood as a Strategy to Obtain a Peptide-Rich Functional Ingredient. [PDF]
Moreno-Mariscal C +4 more
europepmc +1 more source
Do Large Language Models Rank Fairly? An Empirical Study on the Fairness of LLMs as Rankers [PDF]
Yuan Wang +4 more
openalex +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
Rational Design of PCR12mod6, a Cathelicidin-HR-Derived Peptide with Enhanced Dual-Action Antimicrobial and Antioxidant Activity. [PDF]
Tankrathok A +5 more
europepmc +1 more source

