Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

Autor: Jorrit Tjeertes, Carlos A. Bacino, Terry Jo Bichell, Lynne M. Bird, Mariana Bustamante, Rebecca Crean, Shafali Jeste, Robert W. Komorowski, Michelle L. Krishnan, Meghan T. Miller, David Nobbs, Cesar Ochoa-Lubinoff, Kimberly A. Parkerson, Alexander Rotenberg, Anjali Sadhwani, Mark D. Shen, Lisa Squassante, Wen-Hann Tan, Brenda Vincenzi, Anne C. Wheeler, Joerg F. Hipp, Elizabeth Berry-Kravis

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-21 (2023)

Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data

Externí odkaz: https://doaj.org/article/ef450fe783de498baf723d4e7e4e74fb

Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity

Autor: Joerg F. Hipp, Joel Frohlich, Marius Keute, Wen-Hann Tan, Lynne M. Bird

Publikováno v: Biological Psychiatry Global Open Science, Vol 1, Iss 3, Pp 201-209 (2021)

Background: Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the absence of functional UBE3A in neurons. Excess low-frequency oscillations as measured with electroencephalography (EEG) have been identified as a characteristic fi

Externí odkaz: https://doaj.org/article/154414f496b44e42a2ae1f7f1afc4605

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Autor: Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)

Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlation

Externí odkaz: https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Autor: Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)

ABSTRACT Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross‐complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutate

Externí odkaz: https://doaj.org/article/8adc526922e441619f5e782f3745aa77

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

Autor: Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird, Virginia Kimonis

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

Abstract Background Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS leads to stiff and

Externí odkaz: https://doaj.org/article/a5cc60114c0d4ce894e2152585d752d4