Health-related quality of life and medication use among individuals with Angelman syndrome.

Autor: Khan N; RWEC, LLC, 73 Walsingham Road, Mendham, NJ, USA. Nasreen.khan@rwecon.com., Cabo R; Ovid Therapeutics Inc, 441 Ninth Avenue, New York, NY, 10001, USA., Burdine RD; Department of Molecular Biology, Princeton University, 159 Moffett Laboratory, Washington Road, Princeton, NJ, 08544-1014, USA., Tan WH; Division of Genetics and Genomics: Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA., Keary CJ; Angelman Syndrome Program, Lurie Center for Autism, Massachusetts General Hospital for Children, Harvard Medical School, One Maguire Road, Lexington, MA, 02421, USA., Ochoa-Lubinoff C; Division of Developmental-Behavioral Pediatrics, Rush University Medical Center, 1725 West Harrison Street, Suite 710, Chicago, IL, 60612, USA., Bird LM; University of California, San Diego, Department of Pediatrics and Rady Children's Hospital San Diego, Division of Dysmorphology/Genetics, 3020 Children's Way #5031, San Diego, CA, 92123, USA.

Publikováno v: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2023 Jul; Vol. 32 (7), pp. 2059-2067. Date of Electronic Publication: 2023 Apr 11.

Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study.

Autor: Keary C; Massachusetts General Hospital, Boston, MA, USA. Electronic address: ckeary@mgh.harvard.edu., Bird LM; University of California, San Diego and Rady Children's Hospital, San Diego, California, USA., de Wit MC; Department of Pediatric Neurology, ENCORE Expertise Center, ERN-Ithaca Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands., Hatti S; Suburban Research Associates, Media, PA, USA., Heimer G; Sheba Medical Center, The Tel Aviv University, Ramat Gan, Israel., Heussler H; Centre for Children's Health Research, University of Queensland, Brisbane, Australia; Centre for Clinical Trials in Rare Neurodevelopmental Disorders, Queensland Children's Hospital, Brisbane, Australia., Kolevzon A; Icahn School of Medicine at Mount Sinai, USA., Mathews A; Ovid Therapeutics, Cambridge, MA, USA., Ochoa-Lubinoff C; Rush Children's Hospital, Chicago, Illinois, USA., Tan WH; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Yan Y; Ovid Therapeutics, Cambridge, MA, USA., Adams M; Ovid Therapeutics, Cambridge, MA, USA.

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2023 Nov; Vol. 47, pp. 6-12. Date of Electronic Publication: 2023 Aug 01.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Autor: Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K.

Publikováno v: Nature communications, vol 11, iss 1
Nature Communications, 11
Nature communications
Nature Communications, 11, 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications, 11(1). NATURE RESEARCH

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd59829750fcbc0b802de5b3fb7bdab7
https://escholarship.org/uc/item/9mh106j1

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Autor: Wang, T., Hoekzema, K., Vecchio, Davide., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, Giuseppe, Elia, Maurizio., Greco, Donatella, Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti-Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, Corrado, Peeters, H., Gecz, J., Xia, K.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4731::c5d650581cfcc65ae6de60d85932d940
http://hdl.handle.net/20.500.11769/525332

Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study.

Autor: Hendrix JA; LuMind IDSC, 20 Mall Road, Suite 200, Burlington, MA 01803-4126, USA., Airey DC; Eli Lilly and Company, 893 Delaware St. Indianapolis, IN 46225, USA., Britton A; LuMind IDSC, 20 Mall Road, Suite 200, Burlington, MA 01803-4126, USA., Burke AD; St. Joseph's Hospital and Medical Center, Department of Neurology, Barrow Neurological Institute, 350 W. Thomas Rd., Phoenix, AZ 85013, USA., Capone GT; Down Syndrome Clinic & Research Center, Kennedy Krieger Institute, 707 N. Broadway, Baltimore, MD 21205, USA., Chavez R; Department of Neurosciences, Alzheimer's Disease Cooperative Study, University of California San Diego, 9500 Gilman Dr., La Jolla, CA 92093-0949, USA., Chen J; Rush University Medical Center, Division of Developmental Behavioral Pediatrics, Department of Pediatrics, 1653 W. Congress Pkwy, Chicago, IL 60612, USA., Chicoine B; Adult Down Syndrome Center, Advocate Medical Group, 1610 Luther Lane, Park Ridge, IL 60068, USA., Costa ACS; Division of Neurology and Epilepsy, Department of Pediatrics, Department of Psychiatry, Case Western Reserve University School of Medicine, 10524 Euclid Ave, Cleveland, OH 44106, USA., Dage JL; Eli Lilly and Company, 893 Delaware St. Indianapolis, IN 46225, USA., Doran E; Department of Pediatrics, The University of California, Irvine, 333 The City Blvd. West, Suite 800, Orange, CA 92868-4482, USA., Esbensen A; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, USA., Evans CL; Department of Psychiatry, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA., Faber KM; National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), Indiana University School of Medicine, 410 W 10th St, Indianapolis, IN 46202, USA., Foroud TM; National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), Indiana University School of Medicine, 410 W 10th St, Indianapolis, IN 46202, USA., Hart S; Duke University Medical Center, Department of Pediatrics, 2301 Erwin Road, Durham, NC 27705, USA., Haugen K; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA., Head E; Department of Pathology and Laboratory Medicine, The University of California, Irvine, School of Medicine, 1111 Gillepsie Neuroscience Research Facility, Irvine, CA 92697, USA., Hendrix S; Pentara Corporation, 2261 East 3300 South, Suite 200, Millcreek, UT 84109, USA., Hillerstrom H; LuMind IDSC, 20 Mall Road, Suite 200, Burlington, MA 01803-4126, USA., Kishnani PS; Duke University Medical Center, Department of Pediatrics, 2301 Erwin Road, Durham, NC 27705, USA., Krell K; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA., Ledesma DL; Department of Neurosciences, Alzheimer's Disease Cooperative Study, University of California San Diego, 9500 Gilman Dr., La Jolla, CA 92093-0949, USA., Lai F; Department of Neurology, Massachusetts General Hospital, McLean Hospital, and Harvard Medical School, 55 Fruit St, Boston, MA 02114, USA., Lott I; Department of Pediatrics, The University of California, Irvine, 333 The City Blvd. West, Suite 800, Orange, CA 92868-4482, USA., Ochoa-Lubinoff C; Rush University Medical Center, Division of Developmental Behavioral Pediatrics, Department of Pediatrics, 1653 W. Congress Pkwy, Chicago, IL 60612, USA., Mason J; Department of Neurosciences, Alzheimer's Disease Cooperative Study, University of California San Diego, 9500 Gilman Dr., La Jolla, CA 92093-0949, USA., Nicodemus-Johnson J; Pentara Corporation, 2261 East 3300 South, Suite 200, Millcreek, UT 84109, USA., Proctor NK; Eli Lilly and Company, 893 Delaware St. Indianapolis, IN 46225, USA., Pulsifer MB; Department of Psychiatry, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA., Revta C; Department of Neurosciences, Alzheimer's Disease Cooperative Study, University of California San Diego, 9500 Gilman Dr., La Jolla, CA 92093-0949, USA., Rosas HD; Department of Neurology, Massachusetts General Hospital, McLean Hospital, and Harvard Medical School, 55 Fruit St, Boston, MA 02114, USA., Rosser TC; Department of Human Genetics, Emory University, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA., Santoro S; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA.; Department of Pediatrics, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA., Schafer K; Department of Neurosciences, Alzheimer's Disease Cooperative Study, University of California San Diego, 9500 Gilman Dr., La Jolla, CA 92093-0949, USA., Scheidemantel T; University Hospitals Cleveland Medical Center, Department of Psychiatry, Case Western Reserve University School of Medicine, 10524 Euclid Ave, Cleveland, OH 44106, USA., Schmitt F; Sanders-Brown Center on Aging, University of Kentucky, 800 S. Limestone St., Lexington, KY 40536, USA., Skotko BG; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA.; Department of Pediatrics, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA., Stasko MR; University Hospitals Cleveland Medical Center, Department of Psychiatry, Case Western Reserve University School of Medicine, 10524 Euclid Ave, Cleveland, OH 44106, USA., Talboy A; Department of Human Genetics, Emory University School of Medicine, 1365 Clifton Road, NE, Building A, Suite 2200, Atlanta, GA 30322, USA., Torres A; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA., Wilmes K; National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), Indiana University School of Medicine, 410 W 10th St, Indianapolis, IN 46202, USA., Woodward J; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, USA., Zimmer JA; Eli Lilly and Company, 893 Delaware St. Indianapolis, IN 46225, USA., Feldman HH; Department of Neurosciences, Alzheimer's Disease Cooperative Study, University of California San Diego, 9500 Gilman Dr., La Jolla, CA 92093-0949, USA., Mobley W; Department of Neurosciences, University of California, San Diego, 9500 Gilman Dr., La Jolla, CA 92093-0662, USA.

Publikováno v: Journal of clinical medicine [J Clin Med] 2021 Apr 28; Vol. 10 (9). Date of Electronic Publication: 2021 Apr 28.