Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/457257b | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
Prevalence and molecular characterisation of Balantioides coli in pigs raised in Italy.
Parasitol Res
January 2025
Department of Veterinary Medicine and Animal Sciences, Università Degli Studi Di Milano, Via Dell'Università, 6, 26900, Lodi, Italy.
Balantioides coli is the only ciliated protist of both human and veterinary interest and colonises the large intestine of several hosts, including humans and pigs. Given the scarcity of data on B. coli circulation in pigs in Italy, a study was planned to record its prevalence and genetic types and compare the analytical sensitivity of two copromicroscopic techniques.
View Article and Find Full Text PDFDNA metabarcoding reveal hidden diversity of periphytic eukaryotes on marine Antarctic macroalgae.
An Acad Bras Cienc
January 2025
Universidade Federal de Minas Gerais, Instituto de Ciências Biológicas, Departamento de Microbiologia, Av. Antônio Carlos, 6627, Pampulha, 31270-000 Belo Horizonte, MG, Brazil.
Polar marine macroalgae thrive in extreme conditions, often displaying geographic isolation and high degree of endemism. The "phycosphere" refers to the zone around the algae inhabited by microrganisms. Our study used DNA metabarcoding to survey the eukaryotic communities associated with seven seaweed species obtained at King George Island (South Shetland Islands, maritime Antarctic), including two Rhodophyta, two Chlorophyta and three Phaeophyceae.
View Article and Find Full Text PDFAge- and Sex-Specific Regulation of Serine Racemase in the Retina of an Alzheimer's Disease Mouse.
Invest Ophthalmol Vis Sci
January 2025
State Key Laboratory of Ophthalmology, Optometry, and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Purpose: Changes associated with Alzheimer's disease (AD) may have measurable effects on the retina, which may facilitate early detection due to the eye's accessibility. Retinal pathology and the regulation of serine racemase (SR) were investigated in the retinas of APP(SW)/PS1(∆E9) mice.
Methods: SR in the retinas and the content of D-serine in the aqueous humor were analyzed.
Total functioning capacity scale in Huntington's disease: natural course over time.
J Neurol
January 2025
LUMC Department of Neurology, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Background And Objectives: The total functioning capacity (TFC) assessment has been integral to Huntington's disease (HD) research and clinical trials, measuring disease stage and progression. This study investigates the natural progression of function in HD, focusing on changes in TFC scores related to age and CAG-repeat length, and evaluates TFC's strengths and weaknesses in longitudinal studies.
Methods: Using Enroll-HD platform's clinical dataset version 5, including Registry-3, we analysed data from 21,079 participants, with 16,083 having an expanded CAG repeat.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!