Elisabeth Sarrazin
Fort De France
Colmar, France
Colmar, France
Last Updated: 09/26/2026
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Found 24 publications
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
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
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).
Journal: European journal of neurology
Published: April 03, 2025
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 15, 2024
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
Journal: European journal of pain (London, England)
Published: March 12, 2024
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
Bilateral congenital blue sclera: Case report
Journal: Journal francais d'ophtalmologie
Published: May 08, 2023
DLG4-related synaptopathy: a new rare brain disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 16, 2020
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Journal: Cells
Published: February 03, 2020
Last Updated: 09/26/2026