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
The galactic mass injection from cool stellar winds of the 1 to 2.5 ${\vec M}_{\odot}$ stars in the solar neighbourhood [PDF]
K.‐P. Schröder, E. Sedlmayr
openalex +1 more source
Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan +12 more
wiley +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
The Highly Collapsed Configurations of a Stellar Mass [PDF]
S. Chandrasekhar, E. A. Milne
openaire +2 more sources
Fundamentals of Interior Modelling and Challenges in the Interpretation of Observed Rocky Exoplanets. [PDF]
Baumeister P +9 more
europepmc +1 more source
BREATHING FIRE: HOW STELLAR FEEDBACK DRIVES RADIAL MIGRATION, RAPID SIZE FLUCTUATIONS, AND POPULATION GRADIENTS IN LOW-MASS GALAXIES [PDF]
Kareem El-Badry +13 more
openalex +1 more source
A complex structure of escaping helium spanning more than half the orbit of the ultra-hot Jupiter WASP-121 b. [PDF]
Allart R +21 more
europepmc +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong +7 more
wiley +1 more source
The emergence of globular clusters and globular-cluster-like dwarfs. [PDF]
Taylor ED +9 more
europepmc +1 more source

