Thomas Courtin
7PUBLICATIONS
152CO-AUTHORS
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Publications (7)
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|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
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Frequent Collaborators
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Alexis Brice
3 joint publications
Henry Houlden
2 joint publications
Tobias B Haack
2 joint publications
Vincenzo Bonifati
2 joint publications
Bassem A Hassan
2 joint publications
Suzanne Lesage
2 joint publications
Barbara Vona
2 joint publications
Ayşe Nazlı Başak
2 joint publications
Guido J Breedveld
2 joint publications
John Hardy
