# Enrico Bertini

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/enrico-bertini/

## Facts

| Field | Value |
| --- | --- |
| Citations | 56,998 |
| Field | Neurogenetic and Muscular Disorders Research |
| h-index | 114 |
| i10-index | 722 |
| Last Known Institution | Bambino Gesù Children's Hospital |
| OpenAlex ID | https://openalex.org/A5059742070 |
| ORCID iD | https://orcid.org/0000-0001-9276-4590 |
| Works | 1,247 |

## Researcher papers

- [Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care](https://scholariq.org/papers/diagnosis-and-management-of-spinal-muscular-atrophy-part-1-recommendations-for/)
- [Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response](https://scholariq.org/papers/mutations-involved-in-aicardi-goutieres-syndrome-implicate-samhd1-as-regulator/)
- [Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics](https://scholariq.org/papers/diagnosis-and-management-of-spinal-muscular-atrophy-part-2-pulmonary-and-acute/)
- [Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study](https://scholariq.org/papers/nusinersen-initiated-in-infants-during-the-presymptomatic-stage-of-spinal/)
- [Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial](https://scholariq.org/papers/ataluren-in-patients-with-nonsense-mutation-duchenne-muscular-dystrophy-act-dmd/)
- [Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome](https://scholariq.org/papers/clinical-and-molecular-phenotype-of-aicardi-goutieres-syndrome/)
- [COQ2 Nephropathy](https://scholariq.org/papers/coq2-nephropathy/)
- [Consensus Statement on Standard of Care for Congenital Muscular Dystrophies](https://scholariq.org/papers/consensus-statement-on-standard-of-care-for-congenital-muscular-dystrophies/)
- [Consensus Statement on Standard of Care for Congenital Myopathies](https://scholariq.org/papers/consensus-statement-on-standard-of-care-for-congenital-myopathies/)
- [Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go](https://scholariq.org/papers/newborn-screening-programs-for-spinal-muscular-atrophy-worldwide-where-we-stand/)
- [The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia](https://scholariq.org/papers/the-nrf2-induction-prevents-ferroptosis-in-friedreich-s-ataxia/)

## Researcher topics

- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [Muscle Physiology and Disorders](https://scholariq.org/topics/muscle-physiology-and-disorders/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Genetic Neurodegenerative Diseases](https://scholariq.org/topics/genetic-neurodegenerative-diseases/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

## Researcher university

- [Bambino Gesù Children's Hospital](https://scholariq.org/institutions/bambino-gesu-children-s-hospital/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.