Results 51 to 60 of about 159,005 (302)

Genetic 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 more
core   +1 more source

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

Case Reports in Genetics
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due
Hasan Hasan, Ellery R. Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source

Enrichment of human embryonic stem cell-derived V3 interneurons using an Nkx2-2 gene-specific reporter

Scientific Reports, 2023
V3 spinal interneurons are a key element of the spinal circuits, which control motor function. However, to date, there are no effective ways of deriving a pure V3 population from human pluripotent stem cells.
Ieva Berzanskyte, Federica Riccio, Carolina Barcellos Machado, Elizabeth J. Bradbury, Ivo Lieberam   +4 more
doaj   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Sleep Disorders in Children with Rett Syndrome [PDF]

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder marked by neurological regression, autonomic dysfunction, seizures, and significant sleep and breathing abnormalities. About 80% of affected individuals, especially young children, experience
Manisha Witmans, Shannon S. Sullivan, Mary Anne Tablizo, Christopher Harner, Lourdes M. DelRosso, Thomas A. Gaffey   +5 more
core   +1 more source

Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome

Frontiers in Psychiatry, 2022
Individuals with the fragile X premutation report symptoms of chronic pain from multiple systems, have increased incidence of comorbid conditions where pain is a prominent feature, and pathophysiology that supports disrupted pain regulation, inflammation,
Devon Johnson, Ellery Santos, Kyoungmi Kim, Kyoungmi Kim, Matthew D. Ponzini, Matthew D. Ponzini, Yingratana A. McLennan, Andrea Schneider, Andrea Schneider, Flora Tassone, Flora Tassone, Randi J. Hagerman, Randi J. Hagerman   +12 more
doaj   +1 more source

The human gut microbiome across the life course

FEBS Letters, EarlyView.
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source

Outcome measures in Angelman syndrome

Journal of Neurodevelopmental Disorders
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and ...
Doesjka A. Hagenaar, Karen G. C. B. Bindels-de Heus, Maud M. van Gils, Louise van den Berg, Leontine W. ten Hoopen, Philine Affourtit, Johan J. M. Pel, Koen F. M. Joosten, Manon H. J. Hillegers, Henriëtte A. Moll, Marie-Claire Y. de Wit, Gwen C. Dieleman, Sabine E. Mous   +12 more
doaj   +1 more source

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism

Orphanet Journal of Rare Diseases, 2018
Background It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised.
Dawn Adams, Richard P Hastings, Clair Alston-Knox, Rina Cianfaglione, Kate Eden, David Felce, Gemma Griffith, Jo Moss, Chris Stinton, Chris Oliver   +9 more
doaj   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source