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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Friedman, Jennifer, Smith, Desiree E., Issa, Mahmoud Y., Stanley, Valentina, Wang, Rengang, Mendes, Marisa I., Wright, Meredith S., Wigby, Kristen, Hildreth, Amber, Crawford, John R., Koehler, Alanna E., Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N., Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T., Omar, Tarek E. I., Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F., Salomons, Gajja S., Zaki, Maha S., Bernard, Geneviève, Gleeson, Joseph G.
Published in Nature communications (12.02.2019)
Published in Nature communications (12.02.2019)
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Strength and weakness of the guidelines of Rights of Persons with Disabilities Act, 2016 (dated January 5, 2018): With respect to the persons with neurodevelopmental disorders
John, Thomas, Subramanyam, Alka, Sagar, Rajesh
Published in Indian journal of psychiatry (01.07.2018)
Published in Indian journal of psychiatry (01.07.2018)
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A wireless, skin-interfaced biosensor for cerebral hemodynamic monitoring in pediatric care
Rwei, Alina Y., Lu, Wei, Wu, Changsheng, Human, Kelia, Suen, Emily, Franklin, Daniel, Fabiani, Monica, Gratton, Gabriele, Xie, Zhaoqian, Deng, Yujun, Kwak, Sung Soo, Li, Lizhu, Gu, Carol, Liu, Alanna, Rand, Casey M., Stewart, Tracey M., Huang, Yonggang, Weese-Mayer, Debra E., Rogersa, John A.
Published in Proceedings of the National Academy of Sciences - PNAS (15.12.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (15.12.2020)
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Gut microbiota manipulation during the prepubertal period shapes behavioral abnormalities in a mouse neurodevelopmental disorder model
Saunders, Justin M., Moreno, José L., Ibi, Daisuke, Sikaroodi, Masoumeh, Kang, Dae Joong, Muñoz-Moreno, Raquel, Dalmet, Swati S., García-Sastre, Adolfo, Gillevet, Patrick M., Dozmorov, Mikhail G., Bajaj, Jasmohan S., González-Maeso, Javier
Published in Scientific reports (13.03.2020)
Published in Scientific reports (13.03.2020)
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Long-Term Neurobehavioral and Quality of Life Outcomes of Critically Ill Children after Glycemic Control
Biagas, Katherine V., Hinton, Veronica J., Hasbani, Natalie R., Luckett, Peter M., Wypij, David, Nadkarni, Vinay M., Agus, Michael S.D., Srinivasan, Vijay, Mourani, Peter M., Chima, Ranjit, Thomas, Neal J., Li, Simon, Pinto, Alan, Newth, Christopher, Hassinger, Amanda, Bysani, Kris, Rehder, Kyle J., Faustino, Edward Vincent, Kandil, Sarah, Hirshberg, Eliotte, Wintergerst, Kupper, Schwarz, Adam, Bagdure, Dayanand, Marsillio, Lauren, Cvijanovich, Natalie, Pham, Nga, Quasney, Michael, Flori, Heidi, Federman, Myke, Nett, Sholeen, Pinto, Neethi, Viteri, Shirley, Schneider, James, Medar, Shivanand, Sapru, Anil, McQuillen, Patrick, Babbitt, Christopher, Lin, John C., Jouvet, Philippe, Yanay, Ofer, Allen, Christine, Asaro, Lisa, Coughlin-Wells, Kerry, French, Jaclyn, Natarajan, Aruna
Published in The Journal of pediatrics (01.03.2020)
Published in The Journal of pediatrics (01.03.2020)
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Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease
Gabriel, George C., Yagi, Hisato, Tan, Tuantuan, Bais, Abha, Glennon, Benjamin J., Stapleton, Margaret C., Huang, Lihua, Reynolds, William T., Shaffer, Marla G., Ganapathiraju, Madhavi, Simon, Dennis, Panigrahy, Ashok, Wu, Yijen L., Lo, Cecilia W.
Published in Nature communications (07.01.2025)
Published in Nature communications (07.01.2025)
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Tehran environmental and neurodevelopmental disorders (TEND) cohort study: Phase I, feasibility assessment
Golnaz Rezaeizadeh, Reihaneh Pirjani, Alireza Mesdaghinia, Mohammad Sadegh Hassanvand, Noushin Rastkari, Gholamreza Hassanpour, Mansour Shamsipour, Maryam Zare Jeddi, Hosein Dalili, Homa Kashani, Mohammad Effatpanah, Farzad Yunesian, Kazem Naddafi, Mamak Shariat, Fatemeh Javadi, Seyed Jamaleddin Shahtaheri, Ghazal Shariatpanahi, Mahboobeh Shirazi, Mohsen Vigeh, Akram Jamal, NinoKünzli, Fatemeh Sadat Hoseini, Masud Yunesian, Kazuhito Yokoyama, Mina Ebad Ardestani, Simin Nasseri, Heresh Amini, Fatemeh Nayeri, Zahra Peykarporsan
Published in Journal of Environmental Health Science and Engineering (09.09.2020)
Published in Journal of Environmental Health Science and Engineering (09.09.2020)
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A deep learning-based multisite neuroimage harmonization framework established with a traveling-subject dataset
Tian, Dezheng, Zeng, Zilong, Sun, Xiaoyi, Tong, Qiqi, Li, Huanjie, He, Hongjian, Gao, Jia-Hong, He, Yong, Xia, Mingrui
Published in NeuroImage (Orlando, Fla.) (15.08.2022)
Published in NeuroImage (Orlando, Fla.) (15.08.2022)
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TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay
Hanson, Jennifer, Brezavar, Daniel, Hughes, Susan, Amudhavalli, Shivarajan, Fleming, Emily, Zhou, Dihong, Alaimo, Joseph T., Bonnen, Penelope E.
Published in Clinical genetics (01.02.2022)
Published in Clinical genetics (01.02.2022)
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Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations
Sbardella, Diego, Tundo, Grazia Raffaella, Cunsolo, Vincenzo, Grasso, Giuseppe, Cascella, Raffaella, Caputo, Valerio, Santoro, Anna Maria, Milardi, Danilo, Pecorelli, Alessandra, Ciaccio, Chiara, Di Pierro, Donato, Leoncini, Silvia, Campagnolo, Luisa, Pironi, Virginia, Oddone, Francesco, Manni, Priscilla, Foti, Salvatore, Giardina, Emiliano, De Felice, Claudio, Hayek, Joussef, Curatolo, Paolo, Galasso, Cinzia, Valacchi, Giuseppe, Coletta, Massimiliano, Graziani, Grazia, Marini, Stefano
Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2020)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2020)
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Exploring engagement with robots among persons with neurodevelopmental disorders
Beccaluva, Eleonora Aida, Bonarini, Andrea, Cerabolini, Roberto, Clasadonte, Francesco, Garzotto, Franca, Gelsomini, Mirko, Iannelli, Vito Antonio, Monaco, Francesco, Viola, Leonardo
Published in IEEE RO-MAN (01.08.2017)
Published in IEEE RO-MAN (01.08.2017)
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Defining the phenotypic spectrum of SLC6A1 mutations
Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.
Published in Epilepsia (Copenhagen) (01.02.2018)
Published in Epilepsia (Copenhagen) (01.02.2018)
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Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients
Li, Dong, Downes, Helen, Hou, Cuiping, Hakonarson, Hakon, Zackai, Elaine H., Schrier Vergano, Samantha A., Bhoj, Elizabeth J.
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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De novo variants in CNOT3 cause a variable neurodevelopmental disorder
Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
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Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects
Stevens, Kristen E., Price, Julienne E., Marko, Jamie, Kaler, Stephen G.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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MRI of the Neonatal Brain: A Review of Methodological Challenges and Neuroscientific Advances
Dubois, Jessica, Alison, Marianne, Counsell, Serena J., Hertz‐Pannier, Lucie, Hüppi, Petra S., Benders, Manon J.N.L.
Published in Journal of magnetic resonance imaging (01.05.2021)
Published in Journal of magnetic resonance imaging (01.05.2021)
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