Thomas Courtin

7PUBLICATIONS
152CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical biochemistry - proteins and peptides (incl. medical proteomics)Molecular targetsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Amandine Santini, Angelo Tognon, Anne-Claire Richard

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Sep 08, 2022
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.

Christina Fevga, Christelle Tesson, Ana Carreras Mascaro

|Jun 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian

|Sep 12, 2020
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders.

David Zhang, Sebastian Guelfi, Sonia Garcia-Ruiz

|Apr 27, 2019
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

L Saint-Val, T Courtin, P Charles

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Frequent Collaborators

4 joint publications

Alexis Brice

3 joint publications

Henry Houlden

2 joint publications

Tobias B Haack

2 joint publications

Vincenzo Bonifati