CRISPR modeling and correction of cardiovascular disease
Cardiovascular disease remains the leading cause of morbidity and mortality in the
developed world. In recent decades, extraordinary effort has been devoted to defining the …
developed world. In recent decades, extraordinary effort has been devoted to defining the …
A new era in the management of Duchenne muscular dystrophy
R Korinthenberg - Developmental Medicine & Child Neurology, 2019 - Wiley Online Library
The management of Duchenne muscular dystrophy (DMD) has changed considerably over
the last few decades. Standards of care have recently been updated, based on systematic …
the last few decades. Standards of care have recently been updated, based on systematic …
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3
A Schänzer, S Rupp, S Gräf, D Zengeler, C Jux… - Molecular genetics and …, 2018 - Elsevier
Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by
degeneration of myofibrils and aggregation of proteins in striated muscle. Cardiomyopathy is …
degeneration of myofibrils and aggregation of proteins in striated muscle. Cardiomyopathy is …
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)
A Gangfuß, A Hentschel, L Heil, M Gonzalez… - Molecular Genetics and …, 2022 - Elsevier
Popeye domain containing protein 1 (POPDC1) is a highly conserved transmembrane
protein essential for striated muscle function and homeostasis. Pathogenic variants in the …
protein essential for striated muscle function and homeostasis. Pathogenic variants in the …
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
W De Ridder, I Nelson, B Asselbergh… - Neurology …, 2019 - AAN Enterprises
Objective To study the genetic and phenotypic spectrum of patients harboring recessive
mutations in BVES. Methods We performed whole-exome sequencing in a multicenter …
mutations in BVES. Methods We performed whole-exome sequencing in a multicenter …
Oxidative stress, inflammation and connexin hemichannels in muscular dystrophies
A González-Jamett, W Vásquez, G Cifuentes-Riveros… - Biomedicines, 2022 - mdpi.com
Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular
disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and …
disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and …
[HTML][HTML] Sinus bradycardia
Y Hafeez, SA Grossman - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Objectives: Describe the key features of sinus bradycardia. Outline how the diagnosis of
sinus bradycardia is made on ECG. Review how a patient with sinus bradycardia will most …
sinus bradycardia is made on ECG. Review how a patient with sinus bradycardia will most …
Severe adolescent-onset limb-girdle muscular dystrophy due to a novel homozygous nonsense BVES variant
G Beecher, C Tang, T Liewluck - Journal of the Neurological …, 2021 - jns-journal.com
Autosomal recessive limb-girdle muscular dystrophy 25 (LGMDR25) is a recently defined
adult-onset muscular dystrophy due to loss-offunction mutations in the blood vessel …
adult-onset muscular dystrophy due to loss-offunction mutations in the blood vessel …
[HTML][HTML] Junctional rhythm
Y Hafeez, SA Grossman - 2018 - europepmc.org
Objectives: Outline the risk factors of developing a junctional rhythm. Review the
pathophysiology of junctional rhythms. Explain the differential diagnosis of junctional rhythm …
pathophysiology of junctional rhythms. Explain the differential diagnosis of junctional rhythm …
Mapping the current evidence on the anesthetic management of adult patients with neuromuscular disorders—a scoping review
LR van den Bersselaar, M Gubbels, S Riazi… - Canadian Journal of …, 2022 - Springer
Purpose Patients with neuromuscular disorders (NMDs) are at increased risk of
perioperative complications. The objective of this scoping review was to examine emerging …
perioperative complications. The objective of this scoping review was to examine emerging …