Desguerre, Isabelle

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., et al. (2012) · Nature Genetics

RNA regulation and diseaseinterferon and immune responses

Cited by 923

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Barcia, G., Fleming, M. R., Deligniere, A., Gazula, V.-R., Brown, M. R., Langouet, M., Chen, H., Kronengold, J., Abhyankar, A., Cilio, R., et al. (2012) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 525

Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy

Guillou, J., de Pellegars, A., Porcheret, F., Frémeaux-Bacchi, V., Allain-Launay, E., Debord, C., Denis, M., Péréon, Y., Barnérias, C., Desguerre, I., et al. (2022) · Blood Advances

Complement system in diseasesVirus-based gene therapy research

Cited by 166

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Rice, G. I., Meyzer, C., Bouazza, N., Hully, M., Boddaert, N., Semeraro, M., Zeef, L. A. H., Rozenberg, F., Bondet, V., Duffy, D., et al. (2018) · New England Journal of Medicine

HIV/AIDS drug development and treatmentImmunodeficiency and Autoimmune Disorders

Cited by 153

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

Drecourt, A., Babdor, J., Dussiot, M., Petit, F., Goudin, N., Garfa-Traoré, M., Habarou, F., Bole-Feysot, C., Nitschké, P., Ottolenghi, C., et al. (2018) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 100

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Lagrue, E., Dogan, C., De Antonio, M., Audic, F., Bach, N., Barnerias, C., Bellance, R., Cances, C., Chabrol, B., Cuisset, J.-M., et al. (2019) · Neurology

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 76

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti

Bodemer, C., Diociaiuti, A., Hadj‐Rabia, S., Robert, M. P., Desguerre, I., Manière, M. ‐., de la Dure‐Molla, M., De Liso, P., Federici, M., Galeotti, A., et al. (2020) · Journal of the European Academy of Dermatology and Venereology

Genetic and rare skin diseases.Dermatology and Skin Diseases

Cited by 59

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Borck, G., Mollà-Herman, A., Boddaert, N., Encha-Razavi, F., Philippe, A., Robel, L., Desguerre, I., Brunelle, F., Benmerah, A., Munnich, A., et al. (2008) · Human Mutation

Genetics and Neurodevelopmental DisordersCellular transport and secretion

Cited by 44