Publications and ressources

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Alice Lepelley, Yanick Crow , Marie-Louise Frémond, Luís Seabra

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Complete hemispherotomy leads to lateralized functional organization and lower level of consciousness in the isolated hemisphere.

Thomas Blauwblomme, Ludovic Fillon, Nathalie Boddaert, Rima NABBOUT, Jean-Marc Tacchella, Volodia Dangouloff-Ros

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Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246

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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.

Ekin ucuncu, Karthyayani Rajamani , Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline BANAL, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Lydie Burglen, Nathalie Boddaert, Vincent Cantagrel

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Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation.

Ludovic Fillon, Ana Saitovitch, Sandrine Marlin, Jennifer Boisgontier, Alice Vinçon-Leite, Hervé Lemaître, Monica Zilbovicius , Nathalie Boddaert, Caroline Rutten , David Grévent, Charles-Joris Roux, Volodia Dangouloff-Ros, Raphaël Levy

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Rest Functional Brain Maturation during the First Year of Life.

Hervé Lemaître, Pierre Augé, Ana Saitovitch, Alice Vinçon-Leite, Jean-Marc Tacchella, Ludovic Fillon, Nathalie Boddaert, Monica Zilbovicius , Volodia Dangouloff-Ros, Raphaël Levy, David Grévent

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Transient Nodal Signaling in Left Precursors Coordinates Opposed Asymmetries Shaping the Heart Loop.

Audrey Desgrange, Ségolène Bernheim , Tobias Holm Bønnelykke, Sigolène Meilhac

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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Marie-Louise Frémond, Alice Lepelley, Luís Seabra, Yanick Crow

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Transient Nodal Signaling in Left Precursors Coordinates Opposed Asymmetries Shaping the Heart Loop.

Audrey Desgrange, Ségolène Bernheim

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Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Alice Lepelley, Bénédicte Neven, Luís Seabra, Marie-Louise Frémond, Yanick Crow

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Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Alice Lepelley, Bénédicte Neven, Luís Seabra, Marie-Louise Frémond

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Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Alice Lepelley, Bénédicte Neven, Luís Seabra, Marie-Louise Frémond, Yanick Crow

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Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nadine CERF-BENSUSSAN , Bernadette BEGUE, Sylvain Latour, Rémi DUCLAUX-LORAS, Emmanuel Martin, Frédéric Rieux-Laucat

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Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nadine CERF-BENSUSSAN , Sylvain Latour, Rémi DUCLAUX-LORAS, Emmanuel Martin, Frédéric Rieux-Laucat

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Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Jérome Hadjadj, Marie-Claude Stolzenberg, Fabienne Mazerolles, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat

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