Christel Thauvin
Dijon, France
Last Updated: 09/26/2026
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Found 42 publications
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study.
Journal: Molecular genetics and metabolism
Published: September 18, 2025
Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: June 11, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 29, 2025
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
Journal: Nature
Published: April 24, 2025
French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.
Journal: Revue neurologique
Published: March 26, 2025
Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.
Journal: Neurology
Published: March 06, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Journal: Clinical genetics
Published: November 08, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.
Journal: Biomolecules
Published: August 28, 2024
Last Updated: 09/26/2026