Latest Research in Cardiomyopathy and Myosin Studies

Top Research Topics in Cardiomyopathy and Myosin Studies

• Cardiomyopathy and Myosin Studies — 3 papers
• Muscle Physiology and Disorders — 3 papers
• Hereditary Neurological Disorders — 3 papers
• Cardiac electrophysiology and arrhythmias — 2 papers
• Lysosomal Storage Disorders Research — 2 papers
• Glycogen Storage Diseases and Myoclonus — 2 papers
• Nuclear Structure and Function — 1 papers
• Congenital heart defects research — 1 papers
• Mitochondrial Function and Pathology — 1 papers
• Genetic Associations and Epidemiology — 1 papers

Highest-Cited Papers

1. The Multifaceted Role of the FLNC Gene in Hereditary Cardiomyopathies and Prognosis
2. Nav1.5 Beyond Genetics: Loss of Cardiac Sodium-Channel Function in Brugada Syndrome
3. The Future of Genetic Therapy for Inherited Cardiomyopathy
4. The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum
5. Sociodemographic and Clinical Profile of Adult Males With Duchenne Muscular Dystrophy
6. Lipodystrophy in Central Asia: A Regional Literature Review with a Case Series of Congenital and Acquired Generalized Lipodystrophy
7. Expansion of the Clinical and Molecular Spectrum of LINS1 ‐Associated Disease
8. Childhood‐Onset Filamin c Related Cardiomyopathy: Genotype–Phenotype Correlation and Outcome
9. Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes
10. The psychiatric risk gene CACNA1C encodes distinct full-length isoforms in human brain, heart and aorta
11. Late-Onset or Late-Recognized? A Teaching Point From an Elderly X-Linked CGD Carrier
12. Atrial Fibrillation in Genotyped Dilated Cardiomyopathy: Epidemiology, Risk Factors, and Outcomes: Insights From the SHaRe Registry
13. Preliminary Report on the Muscle Imaging Assessment of Viltolarsen Efficacy for Treating Duchenne Muscular Dystrophy
14. An Updated Evidence Assessment of the Genetic Causes of Dilated Cardiomyopathy
15. “Ears of the lynx” sign on MRI: A radiologic clue to hereditary spastic paraplegia
16. Homozygous VPS13A Splice‐Site Variant Causing Chorea‐Acanthocytosis With Feeding Dystonia and Rubber‐Man Gait
17. Global Landscape of SLC37A4 Variants and Their Potential Amenability to Pharmacological Chaperone Therapy in Glycogen Storage Disease Type Ib
18. Neonatal Presentation of Suspected Vici Syndrome: A Case Report with Multisystem Features
19. Sodium octanoate attenuates early post-resuscitation renal injury after hemorrhagic-induced cardiac arrest in a porcine model
20. Clinical Reasoning: A Patient With Progressive Sensory Neuropathy