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Publications by Pilar Larrodé

Severe Infantile-Onset Cardiomyopathy Associated With a Homozygous Deletion in Desmin

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2009English

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Homozygous PLCB1 Deletion Associated With Malignant Migrating Partial Seizures in Infancy

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2012English

Early-Onset Autosomal Recessive Cerebellar Ataxia Associated With Retinal Dystrophy: New Human Hotfoot Phenotype Caused by Homozygous GRID2 Deletion

Genetics in Medicine
MedicineGenetics
2014English

AAV9-mediated Gene Transfer of Desmin Ameliorates Cardiomyopathy in Desmin-Deficient Mice

Gene Therapy
Molecular MedicineGeneticsMolecular Biology
2016English

Fatal Infantile Mitochondrial Encephalomyopathy, Hypertrophic Cardiomyopathy and Optic Atrophy Associated With a homozygousOPA1mutation

Journal of Medical Genetics
Genetics
2015English

Myocardial Fibrosis in Desmin-Related Hypertrophic Cardiomyopathy

Journal of Cardiovascular Magnetic Resonance
Nuclear MedicineRadiologyUltrasound TechnologyCardiologyFamily PracticeRadiologicalCardiovascular MedicineImaging
2010English

Prevalence of Desmin Mutations in Dilated Cardiomyopathy

Circulation
Cardiovascular MedicinePhysiologyCardiology
2007English

Manipulation of Death Pathways in Desmin-Related Cardiomyopathy

Circulation Research
Cardiovascular MedicinePhysiologyCardiology
2010English

Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2014English

Desmin Mutation Responsible for Idiopathic Dilated Cardiomyopathy

Circulation
Cardiovascular MedicinePhysiologyCardiology
1999English

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