SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.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
Spatial GWAS Atlas: a knowledgebase for decoding the genetic architecture of complex traits in spatial resolution. [PDF]
Nucleic Acids ResKang H +6 more
europepmc +1 more source
Spatial resolution of the head and neck cancer tumor microenvironment to identify tumor and stromal features associated with therapy response [PDF]
Naomi Berrell +7 more
openalex +1 more source
Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting +12 more
wiley +1 more source
MALDI spatial proteomics: a mini review of approaches and techniques.
Anal MethodsLopez A, Hummon AB.
europepmc +1 more source
Oligomers mediate the spatial transmission of Aβ peptide aggregation. [PDF]
Commun ChemPeter Q +7 more
europepmc +1 more source
Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster +11 more
wiley +1 more source
Spider: a flexible and unified framework for simulating spatial transcriptomics data. [PDF]
BioinformaticsYang J +7 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.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