Associated Papers
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
Papadopoulos C et al.
International Journal of Molecular Sciences, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
Genetic Insights into Primary Restrictive Cardiomyopathy.
Brodehl A et al.
Journal of Clinical Medicine, 2022
Phenotypic variability within the desminopathies: A case series of three patients.
Yeow D et al.
Frontiers in Neurology, 2022
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S et al.
Neurology, 2021
A different background of arrhythmia in siblings with a positive family history of sudden death at young age.
Stępień-Wojno M et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.
Fan P et al.
Chinese Medical Journal, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Restrictive cardiomyopathy due to novel desmin gene mutation.
Ojrzyńska N et al.
Kardiologia Polska, 2017
[Primary immunodeficiency complicated with Bacillus Calmette-Guerin infection: identification and clinical phenotype of a case of novel interleukin-12Rbeta1 gene mutation].
Xie N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
[PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome].
Yi SD et al.
Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2003