Catherine Sarret

Clermont-ferrand, France

Last Updated: 09/26/2026

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Found 69 publications

Drosophila ryanodine receptor gene triggers functional and developmental muscle properties and could be used to assess the impact of human RYR1 mutations.

Drosophila ryanodine receptor gene triggers functional and developmental muscle properties and could be used to assess the impact of human RYR1 mutations.

Journal: eLife

Published: May 13, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Association Between Adherence to Guidelines and Patient Outcomes in Severe Pediatric Traumatic Brain Injury: A Scoping Review.

Association Between Adherence to Guidelines and Patient Outcomes in Severe Pediatric Traumatic Brain Injury: A Scoping Review.

Journal: Journal of neurotrauma

Published: July 07, 2025

Laminopathies: natural history and risk prediction of heart failure.

Laminopathies: natural history and risk prediction of heart failure.

Journal: European heart journal

Published: June 06, 2025

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

Journal: European journal of neurology

Published: April 22, 2025

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.

Journal: Movement disorders clinical practice

Published: March 13, 2025

The natural history of CDKL5 deficiency disorder into adulthood.

The natural history of CDKL5 deficiency disorder into adulthood.

Journal: medRxiv : the preprint server for health sciences

Published: January 27, 2025

Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.

Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 03, 2024

Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.

Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: July 30, 2024

Serum GFAP and UCH-L1 for the identification of clinically important traumatic brain injury in children in France: a diagnostic accuracy substudy.

Serum GFAP and UCH-L1 for the identification of clinically important traumatic brain injury in children in France: a diagnostic accuracy substudy.

Journal: The Lancet. Child & adolescent health

Published: July 30, 2024

Serum S100B Level in the Management of Pediatric Minor Head Trauma: A Randomized Clinical Trial.

Serum S100B Level in the Management of Pediatric Minor Head Trauma: A Randomized Clinical Trial.

Journal: JAMA network open

Published: March 19, 2024

Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey).

Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey).

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: October 05, 2023

Showing 1-12 of 69

Last Updated: 09/26/2026