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Evidence of altered epidermal nerve fiber morphology in adults with self-injurious behavior and neurodevelopmental disorders
Symons, Frank J., Wendelschafer-Crabb, Gwen, Kennedy, William, Hardrict, Ronald, Dahl, Norm, Bodfish, James W.
Published in Pain (Amsterdam) (01.01.2008)
Published in Pain (Amsterdam) (01.01.2008)
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Genome-wide association studies of brain imaging phenotypes in UK Biobank
Elliott, Lloyd T., Sharp, Kevin, Alfaro-Almagro, Fidel, Shi, Sinan, Miller, Karla L., Douaud, Gwenaëlle, Marchini, Jonathan, Smith, Stephen M.
Published in Nature (London) (01.10.2018)
Published in Nature (London) (01.10.2018)
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Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
Priolo, Manuela, Zara, Erika, Radio, Francesca Clementina, Ciolfi, Andrea, Spadaro, Francesca, Bellacchio, Emanuele, Mancini, Cecilia, Pantaleoni, Francesca, Cordeddu, Viviana, Chiriatti, Luigi, Niceta, Marcello, Africa, Emilio, Mammì, Corrado, Melis, Daniela, Coppola, Simona, Tartaglia, Marco
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
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Expansion of the genotypic and phenotypic spectrum of CTCF‐related disorder guides clinical management: 43 new subjects and a comprehensive literature review
Valverde de Morales, Hannah Gabriela, Wang, Hsiao‐Lin V., Garber, Kathryn, Cheng, Xiaodong, Corces, Victor G., Li, Hong
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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Effects of online tDCS and hf-tRNS on reading performance in children and adolescents with developmental dyslexia: a study protocol for a cross sectional, within-subject, randomized, double-blind, and sham-controlled trial
Battisti, Andrea, Lazzaro, Giulia, Varuzza, Cristiana, Vicari, Stefano, Menghini, Deny
Published in Frontiers in neurology (12.03.2024)
Published in Frontiers in neurology (12.03.2024)
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Risk of suicide attempt with gender diversity and neurodiversity
Polidori, Lorenzo, Sarli, Giuseppe, Berardelli, Isabella, Pompili, Maurizio, Baldessarini, Ross J.
Published in Psychiatry research (01.03.2024)
Published in Psychiatry research (01.03.2024)
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Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction (PIPO) and brain developmental defects
Nosrati, Mohammad Sadegh Shams, Doustmohammadi, Alireza, Severino, Mariasavina, Romano, Ferruccio, Zafari, Mahdi, Nemati, Amir Hesam, Velmans, Clara, Netzer, Christian, Breuer, Jonas, Broekaert, Ilse Julia, Joachim, Alexander, Almasri, Nihad, Kruer, Michael C., Skidmore, Peter, Bisarad, Pritha, Hoque, Jumana, Bakhtiari, Somayeh, Torella, Annalaura, Nigro, Vincenzo, Buffelli, Francesca, Fulcheri, Ezio, Müller, Annette, Zara, Federico, Capra, Valeria, Scala, Marcello
Published in Clinical genetics (01.01.2025)
Published in Clinical genetics (01.01.2025)
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Network over‐connectivity differentiates autism spectrum disorder from other developmental disorders in toddlers: A diffusion MRI study
Conti, E., Mitra, J., Calderoni, S., Pannek, K., Shen, K. K., Pagnozzi, A., Rose, S., Mazzotti, S., Scelfo, D., Tosetti, M., Muratori, F., Cioni, G., Guzzetta, A.
Published in Human brain mapping (01.05.2017)
Published in Human brain mapping (01.05.2017)
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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype
Niceta, Marcello, Pizzi, Simone, Inzana, Francesca, Peron, Angela, Bakhtiari, Somayeh, Nizon, Mathilde, Levy, Jonathan, Mancini, Cecilia, Cogné, Benjamin, Radio, Francesca Clementina, Agolini, Emanuele, Cocciadiferro, Dario, Novelli, Antonio, Salih, Mustafa A., Recalcati, Maria Paola, Arancio, Rosangela, Besnard, Marianne, Tabet, Anne‐Claude, Kruer, Michael C., Priolo, Manuela, Dallapiccola, Bruno, Tartaglia, Marco
Published in Clinical genetics (01.02.2023)
Published in Clinical genetics (01.02.2023)
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., Sadikovic, Bekim
Published in Clinical epigenetics (27.04.2019)
Published in Clinical epigenetics (27.04.2019)
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Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series
Dzinovic, Ivana, Škorvánek, Matej, Necpál, Ján, Boesch, Sylvia, Švantnerová, Jana, Wagner, Matias, Havránková, Petra, Pavelekova, Petra, Haň, Vladimír, Janzarik, Wibke G., Berweck, Steffen, Diebold, Isabel, Kuster, Alice, Jech, Robert, Winkelmann, Juliane, Zech, Michael
Published in Parkinsonism & related disorders (01.09.2021)
Published in Parkinsonism & related disorders (01.09.2021)
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Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder
Kalvakuntla, Sanjana, Lee, MinJae, Chung, Wendy K., Demarest, Scott, Freed, Amber, Horning, Kyle J., Bichell, Terry Jo, Iannaccone, Susan T., Goodspeed, Kimberly
Published in Frontiers in neuroscience (21.02.2023)
Published in Frontiers in neuroscience (21.02.2023)
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A Phase 1, Open-Label Study to Evaluate the Effects of Food and Evening Dosing on the Pharmacokinetics of Oral Trofinetide in Healthy Adult Subjects
Darwish, Mona, Youakim, James M., Harlick, Jim, DeKarske, Daryl, Stankovic, Serge
Published in Clinical drug investigation (01.06.2022)
Published in Clinical drug investigation (01.06.2022)
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