Anne Rovelet-lecrux
Affiliations: | University of Rouen |
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Parents
Sign in to add mentor| Dominique Campion | grad student | 2008 | University of Rouen | |
| (Remaniements génomiques et génes impliqués dans les démences dégénératives) | ||||
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Publications
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| Grangeon L, Charbonnier C, Zarea A, et al. (2023) Phenotype and imaging features associated with APP duplications. Alzheimer's Research & Therapy. 15: 93 |
| Coursimault J, Rovelet-Lecrux A, Cassinari K, et al. (2022) uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. Human Mutation |
| Miguel L, Rovelet-Lecrux A, Chambon P, et al. (2022) Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies. Stem Cell Research. 61: 102762 |
| Nicolas G, Sévigny M, Lecoquierre F, et al. (2022) A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics. Acta Neuropathologica Communications. 10: 20 |
| Rovelet-Lecrux A, Feuillette S, Miguel L, et al. (2021) Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease. Acta Neuropathologica Communications. 9: 196 |
| Rochoux Q, Sopkova-de Oliveira Santos J, Marcelli C, et al. (2021) Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on Protein and Stability, and Review of the Literature. Biomolecules. 11 |
| Grangeon L, Cassinari K, Rousseau S, et al. (2021) Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication. Neurology. Genetics. 7: e609 |
| Alić I, Goh PA, Murray A, et al. (2021) Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain. Molecular Psychiatry |
| Wallon D, Boluda S, Rovelet-Lecrux A, et al. (2021) Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers. Acta Neuropathologica |
| Gelpi E, Aldecoa I, Lopez-Villegas D, et al. (2021) Atypical astroglial pTDP-43 pathology in astroglial predominant tauopathy. Neuropathology and Applied Neurobiology |