# Isabelle Desguerre

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/isabelle-desguerre/

## Facts

| Field | Value |
| --- | --- |
| Citations | 19,690 |
| Field | Muscle Physiology and Disorders |
| h-index | 72 |
| i10-index | 213 |
| Last Known Institution | ASTER |
| OpenAlex ID | https://openalex.org/A5031960202 |
| ORCID iD | https://orcid.org/0000-0002-4074-5862 |
| Works | 384 |

## Researcher papers

- [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/)
- [Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>](https://scholariq.org/papers/characterization-of-human-disease-phenotypes-associated-with-mutations-in-i/)
- [Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling](https://scholariq.org/papers/gain-of-function-mutations-in-ifih1-cause-a-spectrum-of-human-disease-phenotypes/)
- [De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy](https://scholariq.org/papers/de-novo-gain-of-function-kcnt1-channel-mutations-cause-malignant-migrating/)
- [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/)
- [Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies](https://scholariq.org/papers/development-and-validation-of-a-new-risk-prediction-score-for-life-threatening/)
- [Consensus Statement on Standard of Care for Congenital Muscular Dystrophies](https://scholariq.org/papers/consensus-statement-on-standard-of-care-for-congenital-muscular-dystrophies/)
- [Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up](https://scholariq.org/papers/clinical-heterogeneity-of-duchenne-muscular-dystrophy-dmd-definition-of-sub/)
- [Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations](https://scholariq.org/papers/nuclear-envelope-alterations-in-fibroblasts-from-patients-with-muscular/)
- [Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression](https://scholariq.org/papers/analysis-of-dp71-contribution-in-the-severity-of-mental-retardation-through/)

## Researcher topics

- [Muscle Physiology and Disorders](https://scholariq.org/topics/muscle-physiology-and-disorders/)
- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Cardiomyopathy and Myosin Studies](https://scholariq.org/topics/cardiomyopathy-and-myosin-studies/)

## Researcher university

- [ASTER](https://scholariq.org/institutions/aster/)

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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.