Results 121 to 130 of about 3,735,029 (314)
Enzymes of the 2‐hydroxyacyl‐CoA lyase group catalyze the condensation of formyl‐CoA with aldehydes or ketones. Thus, by structural adaptation of active sites, practically any pharmaceutically and industrially important 2‐hydroxyacid could be biotechnologically synthesized. Combining crystal structure analysis, active site mutations and kinetic assays,
Michael Zahn +4 more
wiley +1 more source
Tracking Motor Progression and Device‐Aided Therapy Eligibility in Parkinson's Disease
ABSTRACT Objective To characterise the progression of motor symptoms and identify eligibility for device‐aided therapies in Parkinson's disease, using both the 5‐2‐1 criteria and a refined clinical definition, while examining differences across genetic subgroups.
David Ledingham +7 more
wiley +1 more source
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
Shaoyan Shi,1 Xingxing Yu,2 Xuehai Ou,1 Changming Zheng,1 Fei Xie,1 Yansheng Huang3 1Department of Hand Surgery, Honghui Hospital, Xi’an Jiaotong University, Xi’an, Shaanxi, 710000, People’s Republic of China; 2Department of Laboratory Medicine, Xi’ an ...
Shi S +5 more
doaj
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Fluorescence Guided Resection of Brain Tumors : Evaluation of a Hand-held Spectroscopic Probe
Johan Richter
openalex +2 more sources
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin +6 more
wiley +1 more source
Mediterranean Diet as a Therapeutic Strategy for Hypertension and Cardiovascular Health
Situmbeko Liweleya +10 more
doaj +1 more source

