Thibault Coste

Paris, France

Last Updated: 09/26/2026

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Found 24 publications

Late Cognitive or Mood Alterations With 'Status Cribrosum' and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare COL4A1 Variants Located Within Exon 23.

Late Cognitive or Mood Alterations With 'Status Cribrosum' and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare COL4A1 Variants Located Within Exon 23.

Journal: European journal of neurology

Published: January 22, 2026

COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults.

COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults.

Journal: Stroke

Published: January 02, 2026

Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report.

Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report.

Journal: Cerebral circulation - cognition and behavior

Published: September 19, 2025

Identity-by-Descent Analysis Uncovering a Founder Event in a Novel Hereditary Small Vessel Cerebral Disease.

Identity-by-Descent Analysis Uncovering a Founder Event in a Novel Hereditary Small Vessel Cerebral Disease.

Journal: Stroke

Published: March 24, 2025

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 18, 2024

Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Journal: Prenatal diagnosis

Published: September 09, 2024

Clinical Reasoning: A 50-Year-Old Man With Intracerebral Hemorrhage and Tortuous Retinal Arterioles.

Clinical Reasoning: A 50-Year-Old Man With Intracerebral Hemorrhage and Tortuous Retinal Arterioles.

Journal: Neurology

Published: August 21, 2024

End-truncated CST3 causes severe psychiatric-like symptoms associated with migraine and progressive young-onset dementia.

End-truncated CST3 causes severe psychiatric-like symptoms associated with migraine and progressive young-onset dementia.

Journal: Journal of neurology

Published: August 16, 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

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

Journal: American journal of human genetics

Published: January 09, 2023

Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).

Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).

Journal: The Journal of biological chemistry

Published: July 08, 2022

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: May 02, 2022

Showing 1-12 of 24

Last Updated: 09/26/2026