Rare Diseases

Current bibliography for experts

"Mirnas" search results...

NMDS

Serum miRNAs as biomarkers for the rare types of muscular dystrophy

2022-04-01

It was shown that particular circulating miRNAs can be used as biomarkers for muscular dystrophies like Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2.

FABRY

MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease

2021-07-30

According to the findings of this study, Let-7a and Let-7d may be useful indicators for enzyme activity and inflammation in Fabry disease patients.

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

2020-08-03

Early detection is critical for preventing or reducing the permanent organ damage that comes with Pompe disease (PD) progression. Pathogenesis, clinical phenotypes, molecular genetics, diagnosis and treatments about PD are covered in this article.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

8th Neuromuscular Diseases Congress

The 8th Neuromuscular Diseases Congress will be organized by the Neuromuscular Diseases Research Association between Sep...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...