Anne-Claire Richard
Inserm(FR)Normandie Université(FR)Université de Rouen Normandie(FR)
Publications by Year
Research Areas
Epilepsy research and treatment, Parathyroid Disorders and Treatments, Amyotrophic Lateral Sclerosis Research, Tracheal and airway disorders, Neuroinflammation and Neurodegeneration Mechanisms
Most-Cited Works
- → Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export(2015)309 cited
- → TYROBP genetic variants in early-onset Alzheimer's disease(2016)102 cited
- → Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy(2015)32 cited
- Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies(2025)
- → Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterization of chromatinopathies.(2025)