Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Nathan Noble"'
Autor:
Henry Oppermann, Elia Marcos-Grañeda, Linnea Weiss, Christina Gurnett, Anne Marie Jelsig, Susanne Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair Pagnamenta, Simone Race, Siddharth Srivast, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda Reis, Elena Semina, Miriam Reuter, Stephen Scherer, Maria Iascone, Denisa Weis, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias Haack, Despina Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas Janecke, Johannes Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::120f4187764161cb6139843429cb3d97
https://doi.org/10.21203/rs.3.rs-2401638/v1
https://doi.org/10.21203/rs.3.rs-2401638/v1
Autor:
Dario Pruna, Theresa Grebe, Felippe Borlot, Michael J. Esser, Juan Pablo Appendino, Katherine L. Helbig, Elisa Ballardini, Casey Brew, Anne-Sophie Denommé-Pichon, Anne Ronan, Laurie A. Demmer, Usha Kini, Marta Somorai, Julie Vogt, Sébastien Moutton, Raffaella Faggioli, Julien Van-Gils, Davide Ognibene, Sara Olivotto, Sabine Grønborg, David Coman, David P. Bick, Guido Rubboli, Orrin Devinsky, Atiya S. Khan, Robyn Whitney, Christine Coubes, Caroline Nava, Karen Keough, SakkuBai R. Naidu, Lucio Giordano, Davide Colavito, Dominic Spadafore, Arnaud Isapof, Walla Al-Hertani, Antonio Vitobello, Andrea V. Andrade, Gaetano Cantalupo, Sandra Whalen, Boudewijn Gunning, Shanawaz Hussain, David Hunt, Nathan Noble, Bertrand Isidor, Beatriz Gamboni, Katrine M Johannesen, Julien Buratti, Stephanie Moortgat, Ida Cursio, Agnese Suppiej, Delphine Héron, Lía Mayorga, William Benko, Rahul Raman Singh, Cyril Mignot, Sotirios Keros, Aurore Garde, Nicola Foulds, Claudia A. L. Ruivenkamp, Elena Gardella, Barbara Scelsa, Fernanda Góes, Laurence Faivre, Richard J. Leventer, Ashley Collier, Farha Tokarz, Thomas Courtin, Klaas J. Wierenga, Xilma R. Ortiz-Gonzalez, Frédéric Tran-Mau-Them, Alejandra Mampel, Lynn Greenhalgh, Ashlea Franques, Amélie Piton, Felicia Varsalone, Marjolaine Willems, Alessandro Orsini, Diana Rodriguez, Clothilde Ormieres, Helen Stewart, Boris Keren, Austin Larson, Cathrine E. Gjerulfsen, Julie S. Cohen, Margot R.F. Reijnders, Mel Anderson, Shailesh Asakar, Rikke S. Møller, Alice Bonuccelli, Alexandra Afenjar, Claudio Graziano, Elaine Wirrell, Simona Damioli, Sangeetha Yoganathan, Devorah Segal, Ingo Helbig, Mindy H. Li, Rob P.W. Rouhl, Sarah Hicks, Allan Bayat, Holly Dubbs, Stefania Bigoni, Kelly Ratke, John Brandsema, Eva H. Brilstra
Publikováno v:
Neurology Genetics
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
PURA study group 2021, ' PURA-Related Developmental and Epileptic Encephalopathy : Phenotypic and Genotypic Spectrum ', Neurology: Genetics, vol. 7, no. 6, e613 . https://doi.org/10.1212/NXG.0000000000000613
Paediatrics Publications
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
PURA study group 2021, ' PURA-Related Developmental and Epileptic Encephalopathy : Phenotypic and Genotypic Spectrum ', Neurology: Genetics, vol. 7, no. 6, e613 . https://doi.org/10.1212/NXG.0000000000000613
Paediatrics Publications
Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2038fd7886be837d74d4bafda76745fe
https://hal.science/hal-03881856/document
https://hal.science/hal-03881856/document
Autor:
Nathan Noble
Publikováno v:
The Physical Educator. 74:74-117
Publikováno v:
Behavior Analysis: Research and Practice. 16:94-102
Indirect and direct assessments are widely used to measure the function of challenging behaviors of children in clinical settings. The current study involved comparing results from indirect assessments in identifying the functions of challenging beha
Publikováno v:
Journal of Pediatric Neuropsychology. 1:36-41
The 4q21 microdeletion syndrome is a relatively newer syndrome that has been recently characterized by mild to severe intellectual disability, growth delay, and behavioral problems. The literature reports that aggression and self-injurious behavior h
Autor:
Marcia C. Willing, Shivanand R. Patil, Manjunath Nimmakayalu, Val C. Sheffield, V. Kim Horton, Peter L. Nagy, Oleg A. Shchelochkov, Nathan Noble, Sara Copeland, Thomas H. Wassink
Publikováno v:
American journal of medical genetics. Part A. (11)
As the resolution of molecular cytogenetic methods continues to improve, it has become increasingly possible to refine genotype-phenotype correlations based upon gene involvement. We report three new patients with nonrecurrent deletions involving sub
Autor:
Kenna, Nathan Noble
Between 1921 to 1941, Canada and Japan were close trading partners. The end of World War II provided the two countries with the opportunity to resume their former economic relationship. However, Japan was a defeated country, lacking in resources and
Externí odkaz:
http://hdl.handle.net/10012/5217