Duchenne Muscular Dystrophy: recent advances in protein biomarkers and the clinical application

C Al-Khalili Szigyarto - Expert Review of Proteomics, 2020 - Taylor & Francis
Introduction Early biomarker discovery studies have praised the value of their emerging
results, predicting an unprecedented impact on health care. Biomarkers are expected to …

DMD gene and dystrophinopathy phenotypes associated with mutations: a systematic review for clinicians

JG Andrews, MK Galindo, S Thomas… - Journal of clinical …, 2023 - journals.lww.com
The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic
testing in approximately 95% of cases. Although specific mutations can be associated with …

DMD Pluripotent Stem Cell Derived Cardiac Cells Recapitulate in vitro Human Cardiac Pathophysiology

S Jelinkova, A Vilotic, J Pribyl, F Aimond… - … in bioengineering and …, 2020 - frontiersin.org
Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by the lack
of functional dystrophin. DMD is associated with progressive dilated cardiomyopathy …

T1-Mapping and extracellular volume estimates in pediatric subjects with Duchenne muscular dystrophy and healthy controls at 3T

NG Maforo, P Magrath, K Moulin, J Shao… - Journal of …, 2020 - Springer
Background Cardiovascular disease is the leading cause of death in patients with
Duchenne muscular dystrophy (DMD)—a fatal X-linked genetic disorder. Late gadolinium …

Parkinson´ s disease cardiovascular symptoms: A new complex functional and structural insight

V Kincl, R Panovský, M Bočková… - European Journal of …, 2024 - Wiley Online Library
Background The known impairments of the cardiovascular system in Parkinson´ s disease
(PD) are caused by autonomic dysfunction and manifested mainly in postural hypotension …

Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients

R Panovský, M Pešl, J Máchal, T Holeček… - Orphanet Journal of …, 2021 - Springer
Background Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal
muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of …

Variations in native T1 values in patients with Duchenne muscular dystrophy with and without late gadolinium enhancement

SM Lang, T Alsaied, PR Khoury, TD Ryan… - … International Journal of …, 2021 - Springer
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder leading to progressive
skeletal and cardiac myopathy. Elevated myocardial T1 values correlate with fibrosis in most …

[HTML][HTML] Global, segmental and layer specific analysis of myocardial involvement in Duchenne muscular dystrophy by cardiovascular magnetic resonance native T1 …

K Xu, H Xu, R Xu, L Xie, Z Yang, L Yu, B Zhou… - Journal of …, 2021 - Elsevier
Background Progressive cardiomyopathy accounts for almost all mortality among Duchenne
muscular dystrophy (DMD) patients. ‍ Thus, our aim was to comprehensively characterize …

Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment

L Juříková, L Masárová, R Panovský, M Pešl… - Frontiers in …, 2024 - frontiersin.org
In this prospective study involving 37 Duchenne muscular dystrophy (DMD) patients aged 8–
18 years and older, we examined the impact of neurological and cardiac factors on quality of …

Stress pulmonary circulation parameters assessed by a cardiovascular magnetic resonance in patients after a heart transplant

L Opatřil, R Panovsky, M Mojica-Pisciotti, J Máchal… - Scientific reports, 2022 - nature.com
Rest pulmonary circulation parameters such as pulmonary transit time (PTT), heart rate
corrected PTT (PTTc) and pulmonary transit beats (PTB) can be evaluated using several …