Results 111 to 120 of about 1,509,615 (258)
EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort
Molecular Autism, 2018 ᅟ EU-AIMS is the largest European research program aiming to identify stratification biomarkers and novel interventions for autism spectrum disorder (ASD).Johan Isaksson, Kristiina Tammimies, Janina Neufeld, Élodie Cauvet, Karl Lundin, Jan K. Buitelaar, Eva Loth, Declan G. M. Murphy, Will Spooren, Sven Bölte, the EU-AIMS LEAP group +10 moredoaj +1 more sourceGenetic and functional analyses of SHANK2 mutations suggest a multiple hit model of Autism spectrum disorders [PDF]
, 2012 Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at ...Assouline B., Gillberg I. C., Gillberg, C, Gillberg, I Carina, Gillberg, I.C., Mouren, M., Mouren, M-, Sequeira Ana F., Boeckers, TM, Konyukh, Marina, Chaste, P., Bolton, P, Kantojarvi, K, Kopp Marnie, Bourgeron Thomas, Konyukh Marina, Oriane Mercati, Lathrop, Mark, Leboyer, Marion, Delorme Richard, Anthony P. Monaco (184852), Råstam, Maria,, Freitag, C.M., Rastam Maria, Järvelä I., Pinto, D., Fauchereau, F., Curran Sarah, Leblond, C.S., Chiocchetti, A., Vicente, Astrid, Waltes, R., Collier, David A, Roberto Toro, Bourgeron, T, Bacchelli E., Martin Poot (184849), Poustka, F., Nygren Gudrun, Järvelä, Irma, Vanhala R., Elena Maestrini (184907), Vicente, Astrid M., Henrik Anckarsäter (184814), Järvelä Irma, Barbara Oliveira, Agatino Battaglia, Klauck S. M., Diana Zelenika (69803), Delorme, R, Marie-Christine Mouren (184946), Scherer Stephen W., Mouren Marie-Christine, Gillberg, IC, Holt Richard, Waltes R., Christian Proepper (184780), Fauchereau, Fabien, Duketis E., Fritz Poustka (184874), Oriane Mercati (184839), Klauck, Sabine M., Scherer, SW, Fauchereau Fabien, Vanhala, R, Ruta L., Collier, DA, Klauck, Sabine M, Lemière N., Oliveira, B, Mazzone, L, Oliveira, G, Mercati, O., Sequeira, Ana, F., Catalina Betancur, Marnie Kopp, Battaglia Agatino, Marion Leboyer, Boeckers, Tobias M, Skuse David, Scherer, Stephen W, Mouren M. C., Poot, Martin, Huguet, Guillaume, Mouren, M.C., Marina Konyukh, Andreas Chiocchetti (184869), Anthony P Monaco, Dominique Bonneau, Bonneau, D, Regnault, Beatrice, Leblond, Claire S., Fauchereau F., Ruta, L, Chaste, Pauline, Gillberg, Christopher, Irma Järvelä, Luigi Mazzone, Mark Lathrop, Mouren, Marie-Christine, Pinto D., Melke, Jonas,, Holt, Richard, Pauline Chaste, Guillaume Huguet (184797), Vincent Guinchat, Boeckers, Tobias, M., Guinchat Vincent, Lemière, Nathalie, Brigitte Assouline, Bolton, P., Zelenika Diana, Mazzone L., Kantojärvi Katri, Christine M. Freitag (184876), Claire S. Leblond (184759), Leblond, CS, Dominique Bonneau (144939), Raija Vanhala (184859), Oliveira G., Richard Delorme (184774), Huguet G., Raija Vanhala, Mazzone Luigi, Liliana Ruta, Anckarsäter, Henrik,, Astrid Vicente (184919), Gillberg I. Carina, Bourgeron, Thomas, Anckarsäter, H., Gudrun Nygren (184819), Bacchelli, Elena, Skuse, D., Bacchelli, E, Klauck Sabine M., Bolton Patrick, Chiocchetti A., Boeckers Tobias M., Scherer, Stephen W., Freitag, Christine,, Leblond, Claire, S., Nygren, Gudrun, Delepine Marc, Betancur, C, Leboyer M., Collier, David,, Lemière, N., Poot, M, Lund University., Leblond Claire S., Monaco, Anthony P., Gillberg, C., Poot Martin, Oliveira Barbara, Pauline Chaste (184806), Barbara Oliveira (184915), Boeckers, Tobias M., Devillard F., Chaste Pauline, Delorme R., Mouren M. -C., Melke, J., Maestrini E., Jonas Melke, Curran, S, Bonneau, Dominique, Poot M., Lemière Nathalie, Bourgeron T., Freitag Christine M., Marnie Kopp (184880), Lathrop Mark, Maestrini, Elena, Devillard, F., Mazzone, L., Assouline Brigitte, Böckers, Tobias M., Guillaume Huguet, Anckarsater, H, Oliveira B., Marie-Christine Mouren, Beatrice Regnault (5649310), Poustka Fritz, Guinchat V., Curran S., Collier, David A., Minopoli, F., Anckarsäter Henrik, Thomas Bourgeron (102497), Vanhala, Raija, Dalila Pinto (184925), David Skuse (184848), Sabine M. Klauck (184871), Delepine, Marc, Vicente, A, Nygren, Gudrun,, Collier David A., Toro Roberto, Curran, Sarah, Vanhala, R., Boeckers, Tobias,, Sequeira, AF, Ey, Elodie, Devillard, F, Collier, David, A., Sarah Curran, Brigitte Assouline (184942), Betancur C., Duketis, E, Freitag, Christine M., Oliveira Guiomar, Battaglia, A., Freitag, Christine, M., Pinto Dalila, Delorme, Richard, Stephen W Scherer, Gillberg, Christopher,, Pinto, Dalila, Chiocchetti Andreas, I. Carina Gillberg (184823), Elena Maestrini, Freitag, Christine M, Chaste P| Ey E., Henrik Anckarsäter, Guinchat, V., Bonneau, D., Battaglia, A, Kantojärvi, K., Vincent Guinchat (184933), Waltes, Regina, Jarvela, I, Holt, R., Skuse, David, Marc Delepine, Françoise Devillard, Ana F Sequeira, Rastam M., Elena Bacchelli (184887), Betancur Catalina, Tobias M Boeckers, Minopoli Fiorella, Poot, M., Mouren, M-C, Gillberg Christopher, Sequeira, Ana F., Klauck, SM, Proepper, C, Proepper, C., Jonas Melke (184828), Fiorella Minopoli (184890), Toro R., David A. Collier (184865), Leboyer, M., Devillard, Françoise, Mercati, O, Kopp, M., Melke, Jonas, Gillberg I.C., Zelenika D., Duketis Eftichia, Monaco Anthony P., Fabien Fauchereau (184835), Heinrich, J., Jutta Heinrich (184766), Delepine, M, Boeckers, T.M., Holt, R, Patrick Bolton (184868), Vanhala Raija, Fiorella Minopoli, Andreas Chiocchetti, Bacchelli, E., Monaco, A.P., Guiomar Oliveira, Christopher Gillberg, Proepper, Christian, Nygren G., Poustka, F, Skuse D., Bolton, Patrick F., Melke Jonas, Nygren, G, Guinchat, Vincent, Maestrini, E, Skuse, D, Collier D. A., Lathrop, M, Elodie Ey (184809), Kantojärvi K., Bourgeron, T., Gillberg, I. Carina, Delepine, M., Huguet, G., Agatino Battaglia (184898), Ruta, Liliana, Rastam, M., Zelenika, D, Sequeira, Ana,, Richard Holt (184851), Mercati, Oriane, Liliana Ruta (111348), Konyukh M., Klauck, S.M., Maestrini Elena, Duketis, Eftichia, Monaco, AP, Luigi Mazzone (184903), Leblond, Claire S, Scherer, Stephen,, Leblond, Claire,, Oliveira, Barbara, Guiomar Oliveira (184923), Thomas Bourgeron, Holt R., Astrid Vicente, Ana F. Sequeira (184911), Leboyer Marion, Toro, R., Leboyer, M, Heinrich, J, Mercati O., Vicente A., Heinrich J., Lathrop M., Regnault, B, Duketis, E., Waltes Regina, Kantojärvi, Katri, Lemiere, N, Maria Rastam (184811), Christine M Freitag, Konyukh, M, Regnault Beatrice, State, M., Oliveira, B., Christopher Gillberg (184954), Katri Kantojärvi (184856), Rastam, Maria, Stephen W. Scherer (137813), Sequeira A. F., Poustka F., Fauchereau, F, Assouline, B, Scherer S. W., I Carina Gillberg, Irma Järvelä (184854), Konyukh, M., Scherer, Stephen, W., Elena Bacchelli, Fritz Poustka, Sequeira, Ana F, Collier, D.A., Sequeira, A.F., Battaglia A., Elodie Ey, Richard Delorme, Toro, R, Assouline, B., Bolton, Patrick, Guinchat, V, Françoise Devillard (184938), Gillberg C., Nathalie Lemière, Järvelä, I., Jutta Heinrich, Leblond C. S., Mazzone, Luigi, Proepper Christian, Lathrop, M., Eftichia Duketis (184883), Bacchelli Elena, Betancur, Catalina, Freitag C. M., Chiocchetti, Andreas, Zelenika, Diana, Oliveira, G., Dalila Pinto, Minopoli, Fiorella, Ey Elodie, Vicente Astrid, Ruta, L., Monaco A. P., Waltes, R, Ey E., Minopoli F., Chaste, P, Toro, Roberto, Catalina Betancur (184790), Gudrun Nygren, Regina Waltes (184878), Huguet Guillaume, Sabine M Klauck, Klauck, Sabine, M., Melke, J, Tobias M. Boeckers (184958), Zelenika, D., Anckarsäter H., Proepper C., Kopp, M, Klauck, Sabine,, Marc Delepine (184928), Roberto Toro (184832), Poustka, Fritz, Huguet, G, Martin Poot, Bolton P., Delepine M., Monaco, Anthony P, Vicente, A.M., David Skuse, Bonneau D., Vicente, A., Rastam, M, Beatrice Regnault, Melke J., Kopp M., Ey, E., Heinrich, Jutta, Eftichia Duketis, Nygren, G., Heinrich Jutta, Regnault, B., Kopp, Marnie, Pinto, D, Chaste P., Maestrini, E., Katri Kantojärvi, Bonneau Dominique, Gillberg, I Carina,, Fabien Fauchereau, Mark Lathrop (17971), Minopoli, F, Anckarsäter, Henrik, Devillard Françoise, Marina Konyukh (184802), Nathalie Lemière (184844), Delorme, R., Richard Holt, Assouline, Brigitte, Maria Rastam, Oliveira, Guiomar, Freitag, CM, Regnault B., Curran, S., Christian Proepper, Ruta Liliana, Scherer, S.W., Battaglia, Agatino, Geburtig-Chiocchetti, Andreas, Marion Leboyer (184950), Patrick Bolton, Betancur, C., Regina Waltes, Diana Zelenika, Claire S Leblond, David A Collier, Sarah Curran (184863), Chiocchetti, A, Mercati Oriane, Boeckers T. M., Ey, E +460 morecore +1 more sourcePBRM1 Deficiency in Microglia Leads to Excessive Neurogenesis and Autism‐Like Behaviors via the CCL5‐CCR1/5‐β‐catenin Signaling Axis
Advanced Science, EarlyView.Microglial PBRM1 deficiency drives excessive hippocampal neurogenesis by enhancing CCL5–CCR1/5 signaling, leading to autism‐like behaviors. A pro‐inflammatory IL1α+/TNFα+ microglial subset is identified as a key cellular contributor to this process. PBRM1 represses Ccl5 expression at the transcriptional level.Yang‐Yang Duan, Lin‐Fei Jiao, Pei‐Pei Liu, Chun‐Hui Duan, Xiao Li, Zi‐Han Zhang, Yue‐Qi Zhang, Xin‐Li Ouyang, Hong‐Zhen Du, Sha Liu, Yi Tang, Zhao‐Qian Teng, Chang‐Mei Liu +12 morewiley +1 more sourceMaternal Hyperglycemia Disrupts Cerebral Cortex Development Through the Foxp1‐Dll1‐Notch Axis
Advanced Science, EarlyView.Maternal hyperglycemia disrupts offspring cortical development through a Foxp1–Dll1–Notch signaling axis. In a PGDM mouse model, intrauterine hyperglycemia decreases cortical thickness and perturbs neuronal layering by downregulating Foxp1, which transcriptionally regulates the Notch ligand Dll1.Longkai He, Ya Jin, Guosheng Liu, Hao Liu, Xinyi Zhu, Weipeng Xu, Wei Li, Meiyao He, Yao Shen, Bingxiao Li, Xuesong Yang, Xiaoyu Wang, Shasha Han +12 morewiley +1 more sourceAutism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract
Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini +4 morewiley +1 more sourceMechanical Distraction Engages a Neuro‐Immune Program to Drive Regenerative Soft‐Tissue Healing in Ilizarov Bone Transport
Advanced Science, EarlyView.Ilizarov bone transport accelerates healing of soft‐tissue wounds through unclear mechanisms. In a rat model, sustained mechanical distraction elicits calcitonin gene‐related peptide (CGRP)‐dominant sensory reinnervation, creating a niche that shifts immune cells from inflammatory to repair‐promoting states and speeds re‐epithelialization.Yueliang Zhu, Jiayu Chen, Xuehuan Wen, Kaijia Tang, Ling Gao, Chenxing Wang, Yixuan Feng, Si‐He Qin, Tao Chen, Xiaohua Yu +9 morewiley +1 more sourceArhgef1 Deletion Disrupts Early Cortical Neurogenesis via PAK1 Overactivation and Causes Motor Dysfunction in Adulthood
Advanced Science, EarlyView.ARHGEF1 plays a pivotal role in both embryonic cortical neurogenesis and adult motor function. During early development, it governs genesis of deep‐layer cortical neurons by negatively regulating RAC1/CDC42‐PAK1‐Cofilin signaling. In adulthood, ARHGEF1 is important for the maintenance of neuronal morphology and activity in the motor cortex, ensuring ...Liuren Li, Xuanyue Ma, Zhenyu Ding, Bang Sun, Linglin Liu, Hei Matthew Yip, Wei Wang, Tianying Wu, Yuan Guo, Yinghui Peng, Shiqing Zhang, Jacque Pak Kan Ip, Li Zhang, Keshen Li, Lei Shi +14 morewiley +1 more source
