• 22542 Citations
  • 75 h-Index
1978 …2019
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Fingerprint Dive into the research topics where Enrico Silvio Bertini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Medicine & Life Sciences

Mutation
Genes
Duchenne Muscular Dystrophy
Phenotype
Muscles
Muscular Diseases
Spinal Muscular Atrophy
Ataxia
Muscular Dystrophies
Spinal Muscular Atrophies of Childhood
Mitochondrial Diseases
Missense Mutation
Intellectual Disability
Myotonia Congenita
Hereditary Spastic Paraplegia
Congenital Structural Myopathies
Mitochondrial DNA
Genetic Association Studies
Epilepsy
Biopsy
Proteins
Seizures
Nemaline Myopathies
Motor Neurons
Fibroblasts
Brain
Adrenoleukodystrophy
Exons
Friedreich Ataxia
Cardiomyopathies
Cerebellar Ataxia
Leukoencephalopathies
Brain Diseases
Induced Pluripotent Stem Cells
Neuroimaging
Therapeutics
Leigh Disease
Exome
Disease Progression
Hypertrophic Cardiomyopathy
Muscle Weakness
Electron Transport
Muscle Hypotonia
Glutathione
Collagen
Skeletal Muscle
Peripheral Nervous System Diseases
Myoclonic Epilepsy
Lactic Acidosis
Oxidative Stress