Résultat de recherche

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Elodie Bal, Marine Madrange, Francine Côté, Olivier Hermine, Arnold Munnich, Asma Smahi

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Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI).

Alice Vinçon-Leite, Ana Saitovitch, Hervé Lemaître, Elza Rechtman, Jennifer Boisgontier, Ludovic Fillon, Anne Philippe , Marlène Rio, Aurélie Fabre, Khawla Aljabali, Nathalie Boddaert, Monica Zilbovicius

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Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron

Nathalie Boddaert, Ana Saitovitch, Thomas Blauwblomme, Rima NABBOUT, Volodia Dangouloff-Ros, Ludovic Fillon, Jennifer Boisgontier, Sarah Charpy, Raphaël Levy, Charles-Joris Roux

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Periodic electroencephalographic discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling Magnetic Resonance Imaging.

Ludovic Fillon, Ana Saitovitch, Jennifer Boisgontier, Alice Vinçon-Leite, Thomas Blauwblomme, Monica Zilbovicius , Rima NABBOUT, Nathalie Boddaert

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Case Report: Zolpidem's paradoxical restorative action: A case report of functional brain imaging.

Jennifer Boisgontier, Ana Saitovitch, Thomas Blauwblomme, Ludovic Fillon, Hervé Lemaître, Alice Vinçon-Leite, Sarah Charpy, Monica Zilbovicius , Nathalie Boddaert, Lelio Guida, Raphaël Levy, Charles-Joris Roux, David Grévent

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The longitudinal evolution of cerebral blood flow in children with tuberous sclerosis assessed by arterial spin labeling magnetic resonance imaging may be related to cognitive performance

Nathalie Boddaert, Ana Saitovitch, Thomas Blauwblomme, Monica Zilbovicius , Rima NABBOUT, Caroline Rutten , Mathieu Kuchenbuch , Jennifer Boisgontier, Volodia Dangouloff-Ros

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Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Blaise Didry-Barca, Luís Seabra, Mélanie Parisot, Patrick Nitschké, Isabelle Melki, Marie-Louise Frémond, Marie-Therese El-Daher, Alice Lepelley

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Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

Clémence David, Blaise Didry-Barca, Luís Seabra, Robin KECHICHE, Aurélie Cobat, Laurent Abel , Vivien Beziat, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Jean-Laurent CASANOVA , Marie-Louise Frémond, Alice Lepelley

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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.

Alice Lepelley, Marie-Louise Frémond, Luís Seabra, Christine Bodemer, Pascale De Lonlay, Brigitte Bader-Meunier

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

Alice Lepelley, Marie-Therese El-Daher, Marie-Louise Frémond, Luís Seabra, Yanick Crow

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