Quentin Thomas

15PUBLICATIONS
71CO-AUTHORS
NeonatologyMain group metal chemistryNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Oncology and carcinogenesis not elsewhere classified
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Publications (15)

|Jun 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

|Jan 03, 2026
Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.

Flavie Borel, Christel Thauvin, Manuel Schiff

|Nov 08, 2025
Past, present, and future of genomic technologies in cerebellar ataxias.

Marie Lucain, Yannis Duffourd, Marlene Malbos

|Sep 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Marlène Malbos, Thierry Gautier, Amelle Shillington

|Sep 19, 2025
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.

Loraine Mania-Pâris, Antonio Vitobello, Hana Safraou

|Jul 13, 2024
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Angélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar

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Frequent Collaborators

3 joint publications

Laurence Faivre

3 joint publications

Ange-Line Bruel

3 joint publications

Frederic Tran Mau-Them

2 joint publications

Antonio Vitobello