Florence Demurger

Vannes, France

Last Updated: 09/26/2026

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Found 43 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology
Published: May 26, 2026

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Journal: Research square
Published: January 08, 2026

Real-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study.

Real-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study.

Journal: European journal of neurology
Published: November 23, 2025

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics
Published: November 12, 2025

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine
Published: May 20, 2025

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.

Journal: European journal of neurology
Published: May 20, 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

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 15, 2024

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.

Journal: BMC pregnancy and childbirth
Published: September 02, 2024

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

Journal: JAMA network open
Published: April 17, 2024

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Journal: Brain : a journal of neurology
Published: March 14, 2024
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Last Updated: 09/26/2026