Aurore Curie

Lyon, France

Last Updated: 09/26/2026

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Found 34 publications

Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

Journal: Human mutation

Published: July 17, 2025

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Journal: Heart rhythm

Published: July 15, 2025

Managing Dystonia in Partington Syndrome.

Managing Dystonia in Partington Syndrome.

Journal: Movement disorders clinical practice

Published: May 18, 2025

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.

Journal: BMJ open

Published: January 14, 2025

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Journal: Neurology

Published: March 26, 2024

Central nervous system vasculitis in VEXAS syndrome: A rare involvemen.

Central nervous system vasculitis in VEXAS syndrome: A rare involvemen.

Journal: Clinical neurology and neurosurgery

Published: March 06, 2024

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Journal: Journal of medical genetics

Published: February 09, 2023

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Journal: American journal of medical genetics. Part A

Published: December 02, 2022

Placebo effects in children with autism spectrum disorder.

Placebo effects in children with autism spectrum disorder.

Journal: Developmental medicine and child neurology

Published: September 14, 2022

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

Journal: Molecular psychiatry

Published: June 15, 2022

ANCA vasculitis preceded by isolated joint manifestations. Report of two cases and literature review

ANCA vasculitis preceded by isolated joint manifestations. Report of two cases and literature review

Journal: La Revue de medecine interne

Published: July 12, 2020

Deciphering the natural history of SCA7 in children.

Deciphering the natural history of SCA7 in children.

Journal: European journal of neurology

Published: April 12, 2020

Showing 1-12 of 34

Last Updated: 09/26/2026