Molecular Structure and Properties of Resistant Dextrins from Potato Starch Prepared by Microwave Heating. [PDF]
Kapusniak K+5 more
europepmc +1 more source
Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases. [PDF]
Feng LT, Chen ZN, Bian H.
europepmc +1 more source
Construction of molecular structure model of bituminous coal and study on adsorption characteristics of C2H4 and C2H2. [PDF]
Wu J, Li Z, Huang S, Ding C.
europepmc +1 more source
Three Dihydroquinolin-4-one Derivatives as Potential Biodiesel Additives: From the Molecular Structure to Machine Learning Approach. [PDF]
de Almeida LR+7 more
europepmc +1 more source
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
Precisely Tailoring Molecular Structure of Doxorubicin Prodrugs to Enable Stable Nanoassembly, Rapid Activation, and Potent Antitumor Effect. [PDF]
Feng C+6 more
europepmc +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron+3 more
wiley +1 more source
Mechanistic Study on the Optimization of Asphalt-Based Material Properties by Physicochemical Interaction and Synergistic Modification of Molecular Structure. [PDF]
Cao J, Wang L.
europepmc +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng+6 more
wiley +1 more source