Results 101 to 110 of about 2,523,609 (254)
Pilot study of a real-time early agitation capture technology (REACT) for children with intellectual and developmental disabilities
Digital HealthObjective Children and adolescents with intellectual and developmental disabilities (IDD), particularly those with autism spectrum disorder, are at increased risk of challenging behaviors such as self-injury, aggression, elopement, and property ...Nibraas Khan, Abigale Plunk, Zhaobo Zheng, Deeksha Adiani, John Staubitz, Amy Weitlauf, Nilanjan Sarkar +6 moredoaj +1 more sourcePatient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese +4 morewiley +1 more sourceInfluence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis +6 morewiley +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 sourcesGenetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira +3 morewiley +1 more sourceExtending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu +10 morewiley +1 more source
