SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Colorimetric loop-mediated isothermal amplification for the rapid and visual detection of hepatitis B virus. [PDF]
Khan SJ +4 more
europepmc +1 more source
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez +12 more
wiley +1 more source
Network centrality drives optimal protection investment against systemic risk propagation in complex systems. [PDF]
Park C.
europepmc +1 more source
Psychometric network analysis reveals how sensory processing relates to self-reflection traits in adolescence. [PDF]
Raoul L, Grosbras MH.
europepmc +1 more source
The assimilation affects research from three days' social facilitation of eating by using whole network autocorrelation analysis plus multilevel linear modeling: a normative analysis based on prospective cohort study data in the UK. [PDF]
Wu Q +5 more
europepmc +1 more source
Disentangling the impacts of collective mobility of residents and non-residents on burglary levels. [PDF]
Chen T, Bowers K, Cheng T.
europepmc +1 more source

