What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
Enrico Bertini mostly deals with Genetics, Mutation, Pathology, Internal medicine and Endocrinology. His Genetics study frequently draws connections to adjacent fields such as Congenital myopathy. The study incorporates disciplines such as Molecular biology, Muscular dystrophy, Mitochondrial DNA and Age of onset in addition to Mutation.
His Pathology study incorporates themes from Phenotype, Respiratory chain and Muscle weakness. His Internal medicine research incorporates elements of Gastroenterology and Mitochondrion. His study on Endocrinology also encompasses disciplines like
- Heterozygote advantage which connect with Cardiomyopathy,
- Ataxia together with Leukoencephalopathy with vanishing white matter, Leukodystrophy, Neurodegeneration and Oxidative stress.
His most cited work include:
- Analysis of glutathione: implication in redox and detoxification. (860 citations)
- Consensus Statement for Standard of Care in Spinal Muscular Atrophy (564 citations)
- An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. (544 citations)
What are the main themes of his work throughout his whole career to date?
The scientist’s investigation covers issues in Genetics, Pathology, Internal medicine, Mutation and Pediatrics. His study in Genetics concentrates on Gene, Missense mutation, Phenotype, Allele and Exon. The concepts of his Pathology study are interwoven with issues in Ataxia, Muscular dystrophy and Muscle weakness.
His studies deal with areas such as Gastroenterology, Endocrinology and Cardiology as well as Internal medicine. As part of his studies on Mutation, Enrico Bertini often connects relevant subjects like Molecular biology. His work deals with themes such as Cohort and Epilepsy, which intersect with Pediatrics.
He most often published in these fields:
- Genetics (22.90%)
- Pathology (18.92%)
- Internal medicine (14.82%)
What were the highlights of his more recent work (between 2018-2021)?
- Ataxia (8.96%)
- Pediatrics (10.73%)
- Internal medicine (14.82%)
In recent papers he was focusing on the following fields of study:
Enrico Bertini focuses on Ataxia, Pediatrics, Internal medicine, Cohort and Cell biology. In Ataxia, Enrico Bertini works on issues like Phenotype, which are connected to Genotype. Genotype is the subject of his research, which falls under Genetics.
His Pediatrics study combines topics from a wide range of disciplines, such as Dystonia, Ambulatory and Epilepsy. Enrico Bertini combines subjects such as Endocrinology and Cardiology with his study of Internal medicine. His Cohort research incorporates themes from Spinal muscular atrophy, SMA*, Cohort study and Age of onset.
Between 2018 and 2021, his most popular works were:
- Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. (110 citations)
- RuleMatrix: Visualizing and Understanding Classifiers with Rules (78 citations)
- Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data. (31 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Enrico Bertini mainly investigates Cell biology, Cohort, Ataxia, Pediatrics and Mitochondrion. His Cell biology study combines topics from a wide range of disciplines, such as Oxidative stress, Ex vivo, Knockout mouse and Mitochondrial translation. His studies deal with areas such as Spinal muscular atrophy, Movement disorders, Cohort study and Age of onset as well as Cohort.
His Cerebellar ataxia and Early Onset Cerebellar Ataxia study in the realm of Ataxia connects with subjects such as Frataxin and Large group. His work is dedicated to discovering how Pediatrics, Dystonia are connected with Disease, Chorea, Childhood early, Mutation and Natural history and other disciplines. His research on Molecular genetics concerns the broader Genetics.
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