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Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association
In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …
The chaperone-assisted selective autophagy complex dynamics and dysfunctions
B Tedesco, L Vendredy, V Timmerman, A Poletti - Autophagy, 2023 - Taylor & Francis
Each protein must be synthesized with the correct amino acid sequence, folded into its
native structure, and transported to a relevant subcellular location and protein complex. If …
native structure, and transported to a relevant subcellular location and protein complex. If …
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy
JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman… - Heart rhythm, 2019 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …
Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy
JI van Waning, K Caliskan, YM Hoedemaekers… - Journal of the American …, 2018 - jacc.org
Background: The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from
asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an …
asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an …
A mutation update for the FLNC gene in myopathies and cardiomyopathies
JAJ Verdonschot, EK Vanhoutte, GRF Claes… - Human …, 2020 - Wiley Online Library
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally,
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …
Genetic and functional insights into the fractal structure of the heart
The inner surfaces of the human heart are covered by a complex network of muscular
strands that is thought to be a remnant of embryonic development,. The function of these …
strands that is thought to be a remnant of embryonic development,. The function of these …
Molecular insights into cardiomyopathies associated with desmin (DES) mutations
A Brodehl, A Gaertner-Rommel, H Milting - Biophysical reviews, 2018 - Springer
Increasing usage of next-generation sequencing techniques pushed during the last decade
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies
The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for
the components of the contractile machinery which plays a crucial role in muscle disorders …
the components of the contractile machinery which plays a crucial role in muscle disorders …
Clinical risk prediction in patients with left ventricular myocardial noncompaction
G Casas, J Limeres, G Oristrell… - Journal of the American …, 2021 - jacc.org
Background Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain
prognosis. Objectives This study sought to develop and validate a prediction model of major …
prognosis. Objectives This study sought to develop and validate a prediction model of major …
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
Purpose To characterize the genetic architecture of left ventricular noncompaction (LVNC)
and investigate the extent to which it may represent a distinct pathology or a secondary …
and investigate the extent to which it may represent a distinct pathology or a secondary …