Results 41 to 50 of about 1,885,121 (275)
Autism 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 sourceUnderstanding autism: insights from mind and brain [PDF]
, 2003 Autism is a developmental disorder characterized by impaired social interaction and communication as well as repetitive behaviours and restricted interests. The consequences of this disorder for everyday life adaptation are extremely variable.Hill, E.L., Frith, U., Hill, Elisabeth L., Uta Frith, Frith, Uta, Elisabeth L. Hill +5 morecore +1 more sourceAutistic phenomenology: past, present, and potential future
Frontiers in Psychology, 2023 We are now at a transition point in autism conceptualisation, science, and clinical practise, where phenomenology could play a key role. This paper takes a broad view of the history of phenomenological perspectives on the autism concept and how this has ...Jonathan Green, Nicola Shaughnessydoaj +1 more sourceChild behavior problems and parental well-being in families of children with autism : the mediating role of mindfulness and acceptance [PDF]
, 2014 Few research studies have explored how the level of a child's behavior problems leads to psychological distress in parents of children with autism. The authors explored whether psychological acceptance and mindfulness mediated this relationship between ...Totsika, Vasiliki, Jones, Leah, Hastings, Richard P., Keane, Lisa, Rhule, Neisha, Hastings, Richard Patrick; id_orcid +5 morecore +1 more sourceA genome-wide scan for common alleles affecting risk for autism [PDF]
, 2010 Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs).J. Miller, M. Hill, Joseph T Glessner, Pericak-Vance, M.A., Hilary Coon, Anath C Lionel, Richard Anney, Parrini, Barbara, Nadia Bolshakova, Tansey, Katherine, Melhem, Nadine, M., J. Conroy, J. Rickaby, McGrath, J., Chu, Su H., Hallmayer, Joachim, H. Hakonarson, Lamb, Janine, A., Noor, A., Katherine Sansom, Ann P Thompson, Leboyer, Marion, Magalhaes, Tiago, R., Kustanovich, Vlad, Munson, Jeff, K. Renshaw, Vincent, J.B., G. Baird, Pinto, D., Su H Chu, Gillian Hughes, C. M. Lajonchere, Hakonarson, Hakon, Folstein, Susan, E., Monaco, Anthony, P., Lynne Cochrane, Melhem, Nadine M, Schellenberg, Gerard,, Sansom, K., Regina Regan, Joseph D Buxbaum, Folstein, Susan E., Vicente, Astrid M., Abrahams, B.S., Bierut, L.J., Buxbaum, Joseph,, Paterson, Andrew D, S. Thomson, Agatino Battaglia, Ghazala K Mirza, Yaspan, Brian, L., Andrew D Paterson, Rice, John,, Jiannis Ragoussis, Soorya, L., M. L. Rutter, John I Nurnberger Jr, Wassink, Thomas, H., Klauck, Sabine M., J. Tsiantis, Marshall, Christian R., Brett S Abrahams, Klauck, Sabine M, W. Roberts, Ellen M Wijsman, B. L. Leventhal, S. E. Folstein, Guter, Stephen,, Magalhaes, Tiago,, Bailey, Anthony J, Emily L Crawford, M. A. Pericak-Vance, T. R. Magalhaes, James S Sutcliffe, Marion Leboyer, Howe, J.L., Magalhaes, Tiago R, Noakes, C., Cantor, R.M., Peter Szatmari, Helen Mcconachie, Bailey, Anthony, J., Lajonchere, Clara,, Mcmahon, William, M., Tansey, K., Cook, E.H., Migita, O., B. Thiruvahindrapduram, N. J. Minshew, R. Igliozzi, Estes, A., R. Delorme, et al., N. Sykes, Le Couteur, Ann, Holt, Richard, Salt, Jeff, Folstein, S.E., Laskawiec, Magdalena, Wijsman, E.M., G. Casallo, Munson, J., I. Drmic, Hughes, G., Cook, Edwin,, Thompson, Ann P., Poustka, Annemarie, Mantoulan, Carine, Vincent, John B., Haines, Jonathan,, Posey, David, J., B. L. Yaspan, J. P. Rice, Wijsman, Ellen, M., Drmic, I., Casey, J., Shawn Wood, Penny Farrar, Henri Mondor, Melhem, Nadine M., Wing, K., C. R. Marshall, Alison Merikangas, Wing, Kirsty, Thompson, Ann, P., Scherer, Stephen W., Andrew Crossett, Nygren, Gudrun, R. Segurado, Rutter, M.L., Gallagher, L., Rice, John P., Clara M Lajonchere, Sutcliffe, J.S., Pickles, A., M. Leboyer, S. H. Chu, V. Kustanovich, K. Wang, J. McGrath, Korvatska, Olena, Rice, John, P., Marshall, C.R., Jeff Salt, S. W. Scherer, Carson, Andrew R, Rita M Cantor, Bolton, P.F., Danielle Zurawiecki, Zurawiecki, D., N. Shah, Cook, Edwin H., Szatmari, Peter, J. T. Glessner, L. Klei, A. M. Vicente, Lund, Sabata,, C. Lord, Rutter, Michael,, L. Gallagher, G. K. Mirza, F. Duque, Guter, S.J., A. Kolevzon, Renshaw, K., Casallo, G., S. J. Guter, Rutter, Michael, L., David J Posey, M. de Jonge, Noakes, Carolyn, Alexander Kolevzon, Lund, Sabata, C., Wassink, Thomas H, Ragoussis, Jiannis, Yaspan, Brian L., Lajonchere, Clara, M., F. Volkmar, Cuccaro, Michael L, Goldberg, J., Mirza, Ghazala K., W. M. McMahon, Senman, Lili, Vieland, Veronica J, Nygren, Gudrun,, Carson, Andrew,, Liu, Xiao Qing, O. Migita, C. Kim, Lamb, J.A., Zhouzhi Wang, Lajonchere, C.M., Nancy J Minshew, Kirsty Wing, Prasad, A., Tancredi, Raffaella, T. H. Wassink, Catarina Correia, Posey, D.J., N. Bolshakova, Judith Miller, Roeder, Kathryn, C. Correia, Daniel H Geschwind, Glessner, Joseph,, Mcmahon, William,, Battaglia, A., Fernandez, Bridget A., Cantor, Rita M., Delorme, Richard, Stephen W Scherer, Pinto, Dalila, Jennifer L Howe, Goldberg, Jeremy, Gill, Michael, Jeremy R Parr, Joseph Piven, Elena Maestrini, Mcdougle, Christopher,, L. Lotspeich, Freitag, Christine M, A. Crossett, V. Hus, Wendy Roberts, Maretha De Jonge, V. J. Vieland, E. Maestrini, Margaret A Pericak-Vance, Nelson, Stanley, F., Rickaby, J., Wang, Z., V. Stoppioni, Hus, V., Mcdougle, Christopher, J., Van Engeland, H., Klei, Lambertus, Rutter, Michael L, Lund, Sabata C., Melhem, N.M., J. L. Haines, Crawford, E.L., Tsiantis, J., Abrahams, Brett,, Noor, Abdul, C. Strawbridge, Leboyer, M., R. Regan, R. Holt, Tom Berney, Thompson, Ann P, Baird, G., Glessner, Joseph T., Judith Conroy, Guter, Stephen, J., Nurnberger, John I., Geschwind, Daniel H, Pickles, Andrew, Bacchelli, E., Bolshakova, N., Christopher Gillberg, Guiomar Oliveira, Szatmari, P., Thompson, A.P., Cochrane, Lynne, S. Wood, Lajonchere, Clara M., Nurnberger, John, I., Regan, Regina, Sutcliffe, James,, Bourgeron, T., G. Nygren, Fred Volkmar, Posey, David J., Kolevzon, A., Nadine M Melhem, Soorya, Latha, Hallmayer, J., Scherer, Stephen,, Pericak-Vance, Margaret A., Jonathan L Haines, N. M. Melhem, Thomas Bourgeron, Haines, Jonathan L, A. Tryfon, D. Sato, R. Anney, L. Cochrane, Katherine Tansey, Vieland, Veronica, J., J. Hallmayer, Fernandez, Bridget, A., Sheffield, V.C., Liu, X.Q., Duketis, E., Cook, Edwin, H., Lotspeich, Linda, K. Tansey, Abrahams, Brett, S., Correia, C., L. Senman, Gillian Baird, Jessica Brian, de Jonge, Maretha, R. M. Cantor, Daisuke Sato, Chu, Su,, Lionel, Anath,, Annette Estes, J. Brian, Schellenberg, Gerard D, J. Salt, Wittemeyer, K., Kerstin Wittemeyer, C. Gillberg, Salt, J., Brennan, S., Cantor, Rita M, Zwaigenbaum, L., Albert Chenevier, Susan E Folstein, Christopher J Mcdougle, Kim, Cecilia, Elizabeth A Heron, Duque, Frederico, Brennan, Sean, Sousa, Inês, Nurnberger, John,, Estes, Annette, Buxbaum, Joseph, D., Katerina Papanikolaou, K. Wing, J. Almeida, O. Korvatska, Tsiantis, John, D. H. Geschwind, Carson, Andrew, R., Corsello, Christina, H. Coon, Leventhal, Bennett L, Baird, Gillian, Oliveira, G., Wassink, Thomas H., Dalila Pinto, Inês Sousa, T. Berney, Mirza, Ghazala,, McDougle, Christopher J, E. Bacchelli, Wang, Zhouzhi, Gudrun Nygren, Klauck, Sabine, M., Paterson, Andrew, D., Carson, Andrew R., van Engeland, Herman, Klauck, Sabine,, Klei, L., Bierut, Laura J., Tiago R Magalhaes, S. F. Nelson, Posey, David J, Tryfon, A., W. Mahoney, C. Corsello, Paterson, Andrew,, Leventhal, Bennett,, Jonathan Green, Vicente, A.M., J. I. Nurnberger, Howe, Jennifer L, McDougle, C.J., A. J. Bailey, Pericak-Vance, Margaret Ann, Rickaby, Jessica, Gerard D Schellenberg, Lamb, Janine A, Cuccaro, Michael, L., Sheffield, Val, C., Migita, Ohsuke, J. Gilbert, Wijsman, Ellen,, Mahoney, William, J. A. Lamb, K. Wittemeyer, Roberts, Wendy, Eftichia Duketis, Minshew, Nancy J, Wallace, S., Sato, Daisuke, Geschwind, Daniel,, Miller, Judith, Roberts, W., Maestrini, E., F. Poustka, Michael Gill, osey, David J., Hill, M., V. C. Sheffield, Jane Mcgrath, Conroy, Judith, J. Green, Boelte, Sven, H. Van Engeland, Vlad Kustanovich, C. J. McDougle, H. McConachie, Lund, S.C., Jeremy Goldberg, Merikangas, Alison, Scherer, S.W., Bierut, Laura,, J. D. Buxbaum, Hughes, Gillian, Volkmar, Fred, Betancur, C., Thomson, S., Carine Mantoulan, Strawbridge, C., Fernandez, Bridget,, Cuccaro, Michael,, Naisha Shah, Wittemeyer, Kerstin, Miller, J., Chu, S.H., Guter, Stephen J., Cuccaro, Michael L., Buxbaum, Joseph D, Vincent, John,, Simon Wallace, Heron, Elizabeth A., Coon, H., Heron, E.A., Louise Gallagher, Zwaigenbaum, Lonnie, Ann Le Couteur, Bölte, S., G. D. Schellenberg, Piven, J., Vieland, Veronica,, Sutcliffe, James S, Sousa, I., A. C. Lionel, Buxbaum, Joseph D., Vicente, Astrid,, Sykes, N., Freitag, C.M., Almeida, J., Roge, B., Howe, Jennifer, L., de Jonge, M., Pagnamenta, A.T., M. L. Cuccaro, Mantoulan, C., Poustka, F., McMahon, W.M., Anney, R., A. D. Paterson, Folstein, Susan E, Vincent, John, B., Green, J., Pagnamenta, Alistair,, Wang, K., Lionel, Anath C., Jeff Munson, Rutter, Michael L., Wassink, Thomas,, Yaspan, B.L., Michael L Rutter, Bierut, Laura Jean, Matthew Hill, Brian, J., John B Vincent, Laura J Bierut, Janine A Lamb, Annemarie Poustka, Joachim Hallmayer, Wassink, T.H., Stoppioni, V., Zurawiecki, Danielle, M., Magalhães, Tiago R., Ragoussis, J., Segurado, R., E. H. Cook, Fernandez, B.A., Catalina Betancur, Parr, Jeremy,, Bolshakova, Nadia, Mahoney, W., Vincent, John B, Leventhal, B.L., Scherer, Stephen W, P. F. Bolton, Sato, D., A. Battaglia, E. Fombonne, J. Goldberg, B. Roge, Posey, David,, Anthony P Monaco, Gilbert, John, Farrar, P., Christina Corsello, Haines, Jonathan L., Vanessa Hus, Wijsman, Ellen M, Berney, Tom, Pericak-Vance, Margaret, A., Hakonarson, H., Gillberg, Christopher, E. A. Heron, D. J. Posey, William M Mcmahon, Jessica Rickaby, Lamb, Janine,, Lambertus Klei, Lili Senman, Lotspeich, L., Rice, J.P., Nurnberger Jr, J.I., Korvatska, O., Heron, Elizabeth,, McConachie, H., M. Gill, Vicente, Astrid M, A. R. Carson, Paterson, Andrew D., John P Rice, Lord, Catherine, Volkmar, F., B. A. Fernandez, Gilbert, J., Vieland, V.J., Bourgeron, Thomas, Schellenberg, Gerard D., Rutter, Michael L.; id_orcid, Bacchelli, Elena, J. S. Sutcliffe, A. Merikangas, Wijsman, Ellen M., Freitag, Christine,, Thiruvahindrapduram, Bhooma, Rice, John P, Carson, A.R., Le Couteur, A., Pericak-Vance, Margaret,, Lamb, Janine A.; id_orcid, Sheffield, Val C., Ohsuke Migita, Mirza, Ghazala, K., Papanikolaou, Katerina, Schellenberg, Gerard, D., Schellenberg, G.D., McMahon, William M., Senman, L., Val C Sheffield, K. Sansom, Strawbridge, Christina, Monaco, Anthony P., E. Duketis, Gillberg, C., Haines, J.L., Lund, Sabata C, Segurado, Ricardo, Green, Jonathan; id_orcid, G. Oliveira, A. P. Thompson, Stoppioni, Vera, Zurawiecki, Danielle,, Parrini, B., I. Sousa, Kathryn Roeder, J. L. Howe, Papanikolaou, K., Ennis, Sean, Tryfon, Ana, B. Parrini, A. Noor, Igliozzi, Roberta, Merikangas, A., Christina Strawbridge, Chu, Su, H., Maestrini, Elena, Vicente, Astrid, M., Yaspan, Brian,, Guillermo Casallo, Parr, Jeremy, R., Geschwind, D.H., Patrick F Bolton, Lionel, A.C., Magdalena Laskawiec, A. T. Pagnamenta, Bierut, Laura, J., C. Noakes, Bhooma Thiruvahindrapduram, Cantor, Rita, M., Dawson, Geraldine, Ricardo Segurado, Tansey, Katherine E., Thomson, Susanne, Bennett L Leventhal, McDougle, Christopher J., Glessner, J.T., Chu, Su H, Edwin H Cook, Sean Brennan, Poustka, A., Folstein, Susan,, Bernie Devlin, Lionel, Anath C, Crawford, Emily, L., E. L. Crawford, Coon, Hilary, E. M. Wijsman, Bailey, A.J., Bölte, Sven, Paton, Tara, B. S. Abrahams, Freitag, Christine M., Buxbaum, J.D., Lionel, Anath, C., Mirza, Ghazala K, Sabata C Lund, Freitag, Christine, M., Catherine Lord, Gillberg, Christopher,, Wallace, Simon, Nelson, Stanley F, Cecilia Kim, Abdul Noor, Minshew, Nancy J., D. Zurawiecki, Correia, Catarina, R. Tancredi, Bridget A Fernandez, S. C. Lund, Sven Bö Lte, Fombonne, E., Bernadette Roge, Anney, Richard, Holt, R., T. Bourgeron, Berney, T., Glessner, Joseph, T., Andrew R Carson, Wood, Shawn, Casallo, Guillermo, Glessner, Joseph T, Raffaella Tancredi, Vera Stoppioni, Heron, Elizabeth, A., Christian R Marshall, Andrew Pickles, Fernandez, Bridget A, Crawford, Emily,, T. Paton, J. B. Vincent, Bolton, Patrick, F., Lonnie Zwaigenbaum, Stanley F Nelson, Astrid M Vicente, Eric Fombonne, Stephen J Guter, B. Devlin, Sheffield, Val,, Howe, Jennifer L., Olena Korvatska, Pagnamenta, Alistair T., Almeida, Joana, Thiruvahindrapduram, B., Crossett, Andrew, Cochrane, L., Thompson, Ann,, Jillian Casey, Minshew, N.J., Brian, Jessica, Engeland, Herman van, L. Zwaigenbaum, Ennis, S., Monaco, A.P., Devlin, Bernie, Katy Renshaw, Bolton, Patrick,, Irene Drmic, Bolton, Patrick F., A. Poustka, G. Dawson, Carolyn Noakes, 49, Howe, Jennifer,, Latha Soorya, M. Laskawiec, Bailey, Anthony J., Duque, F., L. J. Bierut, Aparna Prasad, Hus, Vanessa, Sansom, Katherine, Alistair T Pagnamenta, Klauck, S.M., Duketis, Eftichia, L. Soorya, Roberta Igliozzi, Wood, S., Piven, Joseph, Nelson, Stanley,, Veronica J Vieland, C. Betancur, Monaco, Anthony,, Yaspan, Brian L, Abrahams, Brett S., Laskawiec, M., S. M. Klauck, McGrath, Jane, G. Hughes, Gill, M., Nelson, Stanley F., Geschwind, Daniel, H., Geraldine Dawson, Cook, Edwin H, Roge, Bernadette, Sykes, Nuala, Heron, Elizabeth A, Marshall, Christian R, Anthony J Bailey, Melhem, Nadine,, Marshall, Christian, R., Crossett, A., Prasad, Aparna, Christine M Freitag, Pericak-Vance, Margaret A, Paton, T., A. P. Monaco, A. Estes, Thomas H Wassink, Herman Van Engeland, Sutcliffe, James S., C. M. Freitag, Joana Almeida, Guter, Stephen J, Z. Wang, Brian L Yaspan, Shah, Naisha, A. Pickles, Sutcliffe, James, S., J. Ragoussis, Frederico Duque, Lamb, Janine A., Bierut, Laura J, Dawson, G., Roeder, K., McMahon, William M, Sheffield, Val C, Green, Jonathan, Scherer, Stephen, W., Elena Bacchelli, D. Pinto, Tancredi, R., Fritz Poustka, Linda Lotspeich, Nurnberger, John I, Parr, Jeremy R., Kustanovich, V., Richard Delorme, A. Le Couteur, Igliozzi, R., Mirza, G.K., Crawford, Emily L, Kai Wang, Magalhaes, T.R., Betancur, Catalina, J. Piven, Hill, Matthew, Geschwind, Daniel H., Tara Paton, Leventhal, Bennett L., J. R. Parr, Jonge, Maretha de, Minshew, Nancy, J., William Mahoney, McConachie, Helen, Kim, C., Fombonne, Eric, Xiao-Qing Liu, S. Wallace, Hakon Hakonarson, Sabine M Klauck, K. Roeder, Barbara Parrini, Kolevzon, Alexander, S. Ennis, Nelson, S.F., John Gilbert, Crawford, Emily L., Corsello, C., Marshall, Christian,, Poustka, Fritz, Zurawiecki, Danielle, Conroy, J., Monaco, Anthony P, Gallagher, Louise, Bailey, Anthony,, Cuccaro, M.L., S. Brennan, Lord, C., Devlin, B., Pagnamenta, Alistair T, J. Munson, K. Papanikolaou, Parr, J.R., Shah, N., Nygren, G., Pagnamenta, Alistair, T., Abrahams, Brett S, Michael L Cuccaro, Wang, Kai, Regan, R., Parr, Jeremy R, J. Casey, Renshaw, Katy, Sean Ennis, Vieland, Veronica J., P. Szatmari, Ana Tryfon, John Tsiantis, Nuala Sykes, P. Farrar, Leventhal, Bennett, L., Delorme, R., Richard Holt, Haines, Jonathan, L., Oliveira, Guiomar, Cantor, Rita,, Battaglia, Agatino, Drmic, Irene, Lajonchere, Clara M, Susanne Thomson, Farrar, Penny, X.-Q. Liu, Minshew, Nancy,, Paterson, A.D., Casey, Jillian, Liu, Xiao-Qing, S. Bolte, C. Mantoulan, A. Prasad, Van Engeland, H, Yaspan, BL, Heron, Elizabeth, Prasad, A, Regan, R, Folstein, Susan, Posey, DJ, Oliveira, G, Igliozzi, R, Bolton, PF, Baird, G, Gilbert, J, Abrahams, Brett, Lajonchere, Clara, Crawford, EL, Brian, J, Vieland, VJ, Marshall, CR, Melhem, NM, Howe, Jennifer, Bacchelli, E, McConachie, H, Parrini, B, de Jonge, M, Cantor, RM, Betancur, C, Mahoney, W, Gill, M, Lund, SC, Tsiantis, J, Soorya, L, Wijsman, EM, Posey, David, Strawbridge, C, Sheffield, VC, McGrath, J, Drmic, I, Thompson, AP, Hakonarson, H, Corsello, C, Mantoulan, C, Paton, T, Pagnamenta, AT, Freitag, Christine, Tancredi, R, Duketis, E, Brennan, S, Bailey, Anthony, Coon, H, Rutter, ML, Ennis, S, Thiruvahindrapduram, B, Sansom, K, Bierut, LJ, Lord, C, Lajonchere, CM, Zurawiecki, D, Volkmar, F, Munson, J, Bolton, Patrick, Wang, K, Holt, R, Wang, Z, Dawson, G, Bölte, S, Roge, B, Nygren, G, Wood, S, Kustanovich, V, Duque, F, Mirza, GK, Monaco, AP, Casallo, G, Abrahams, BS, Wittemeyer, K, Hughes, G, Wing, K, Estes, A, Parr, Jeremy, Korvatska, O, Schellenberg, GD, Lamb, JA, Magalhaes, Tiago, Parr, JR, Gallagher, L, Pericak-Vance, MA, Hus, V, Wassink, TH, Cuccaro, ML, Piven, J, Cook, EH, Chu, SH, Crossett, A, Buxbaum, JD, Salt, J, Green, J, Anney, R, Laskawiec, M, Freitag, CM, Shah, N, Bailey, AJ, Nelson, Stanley, Gillberg, C, Klei, L, Fernandez, Bridget, Minshew, Nancy, Chu, Su, Hallmayer, J, McDougle, CJ, Bourgeron, T, Carson, Andrew, Delorme, R, Scherer, SW, Roeder, K, Senman, L, Stoppioni, V, Rickaby, J, Leventhal, Bennett, Mcdougle, Christopher, Magalhaes, TR, Casey, J, Migita, O, Berney, T, Renshaw, K, Zwaigenbaum, L, Merikangas, A, Paterson, AD, Rice, JP, Pickles, A, Bolshakova, N, Sutcliffe, JS, Lionel, AC, Glessner, JT, Vincent, JB, Correia, C, Sykes, N, Hill, M, Pagnamenta, Alistair, Carson, AR, Sato, D, Melhem, Nadine, Conroy, J, Guter, Stephen, Sousa, I, Marshall, Christian, Lionel, Anath, Farrar, P, Nurnberger, JI, Kim, C, Lotspeich, L, McMahon, WM, Mcmahon, William, Noakes, C, Roberts, W, Tansey, K, Miller, J +999 morecore +2 more sourcesExecutive dysfunction in autism [PDF]
, 2004 ‘Executive function’ is an umbrella term for functions such as planning, working memory, impulse control, inhibition and mental flexibility, as well as for the initiation and monitoring of action. The primacy of executive dysfunction in autism is a topic Hill, Elisabeth L.core +1 more source
