المؤلفون: Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5Test

المؤلفون: Jerry R. Mendell, Anne M. Connolly, Kelly J. Lehman, Danielle A. Griffin, Sohrab Z. Khan, Sachi D. Dharia, Lucía Quintana-Gallardo, Louise R. Rodino-Klapac

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 74-83 (2022)

مصطلحات موضوعية: adeno-associated virus, antibodies, assays, binding assays, efficacy, gene transfer therapy, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050122000274Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/9eafd3b4081a49d49fbad8f206d488ccTest

المؤلفون: Anne M. Connolly, Craig M. Zaidman, John F. Brandsema, Han C. Phan, Cuixia Tian, Xueping Zhang, Jack Li, Mark D. Eisner, Ewa Carrier

المصدر: Journal of Neuromuscular Diseases. :1-15

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c309bab1330d28510e2abd0cebb430faTest
https://doi.org/10.3233/jnd-230019Test

المؤلفون: Richard S. Finkel, Basil T. Darras, Jerry R. Mendell, John W. Day, Nancy L. Kuntz, Anne M. Connolly, Craig M. Zaidman, Thomas O. Crawford, Russell J. Butterfield, Perry B. Shieh, Gihan Tennekoon, John F. Brandsema, Susan T. Iannaccone, John Shoffner, Sarah Kavanagh, Thomas A. Macek, Sitra Tauscher-Wisniewski

المصدر: Journal of Neuromuscular Diseases. 10:389-404

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7d5eb54d24288fbd5c2fde8424effb87Test
https://doi.org/10.3233/jnd-221560Test

المؤلفون: Amy Bartlett, Stephen J. Kolb, Allison Kingsley, Kathryn J. Swoboda, Sandra P. Reyna, Ai Sakonju, Basil T. Darras, Richard Shell, Nancy Kuntz, Diana Castro, Susan T. Iannaccone, Julie Parsons, Anne M. Connolly, Claudia A. Chiriboga, Craig McDonald, W. Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B. Shieh, Erika Finanger, Christopher S. Coffey, Jon W. Yankey, Merit E. Cudkowicz, Michelle M. McGovern, D. Elizabeth McNeil, W. David Arnold, John T. Kissel

المصدر: Contemporary Clinical Trials Communications, Vol 11, Iss , Pp 113-119 (2018)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2451865418300243Test; https://doaj.org/toc/2451-8654Test

الوصول الحر: https://doaj.org/article/c20105f5211a4c60a677082f4b5666d9Test

المؤلفون: Sarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, Gyula Acsadi, John Brandsema, Emma Ciafaloni, Basil T Darras, Susan T Iannaccone, Chamindra G Konersman, Nancy L Kuntz, Craig M McDonald, Julie A Parsons, Carolina Tesi Rocha, Craig M Zaidman, Russell J Butterfield, Anne M Connolly, Katherine D Mathews

المصدر: PLoS ONE, Vol 15, Iss 10, p e0240687 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/6715df668b4d4feb89a01ef4461b2d2eTest

المؤلفون: Christopher R. Heier, Aiping Zhang, Nhu Y Nguyen, Christopher B. Tully, Aswini Panigrahi, Heather Gordish-Dressman, Sachchida Nand Pandey, Michela Guglieri, Monique M. Ryan, Paula R. Clemens, Mathula Thangarajh, Richard Webster, Edward C. Smith, Anne M. Connolly, Craig M. McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Jean K. Mah, Alyson A. Fiorillo, Yi-Wen Chen

المصدر: Journal of Personalized Medicine, Vol 10, Iss 236, p 236 (2020)

مصطلحات موضوعية: FSHD, biomarkers, miRNA, proteomics, calprotectin, dystrophy, Medicine

العلاقة: https://www.mdpi.com/2075-4426/10/4/236Test; https://doaj.org/toc/2075-4426Test; https://doaj.org/article/9f106ec2e0fc4c18a9e807bb0997faaeTest

الإتاحة: https://doi.org/10.3390/jpm10040236Test
https://doaj.org/article/9f106ec2e0fc4c18a9e807bb0997faaeTest

المؤلفون: Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Livja Medne, Richard Finkel, Anne M. Connolly, Thomas O. Crawford, Daniel Drachman, Nicolas Wein, Ali A. Habib, Monika A. Krzesniak‐Swinarska, Craig M. Zaidman, James J. Collins, Manu Jokela, Bjarne Udd, John W. Day, Gloria Ortiz‐Guerrero, Jeff Statland, Russell J. Butterfield, Diane M. Dunn, Robert B. Weiss, Kevin M. Flanigan

المصدر: Hum Mutat
Human mutation, vol 43, iss 4

مصطلحات موضوعية: Duchenne muscular dystrophy, Duchenne/ Becker Muscular Dystrophy, pseudoexon, deep intronic, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Article, Dystrophin, Rare Diseases, Genetics, Humans, Muscular Dystrophy, Genetics (clinical), transcription termination, Pediatric, Genetics & Heredity, Human Genome, telescripting, Duchenne, Introns, Brain Disorders, Muscular Dystrophy, Duchenne, Becker muscular dystrophy, Musculoskeletal, Mutation, RNA Splice Sites, Biotechnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9339c60faf200ac6ffe2bfe97b06d1Test
https://doi.org/10.1002/humu.24343Test

المؤلفون: Anne M. Connolly, Megan A. Waldrop, Jerry R. Mendell

المصدر: Expert Opinion on Orphan Drugs. 9:199-204

مصطلحات موضوعية: business.industry, Health Policy, Medicine, Pharmacology (medical), SMN1, Anatomy, Spinal muscular atrophy, business, medicine.disease, Pharmacology, Toxicology and Pharmaceutics (miscellaneous)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d27d5d3242a2b4a610c473bb857b5c21Test
https://doi.org/10.1080/21678707.2021.2003778Test

المؤلفون: John W. Day, Mar Tulinius, Alan Pestronk, Tina Duong, Tulio E. Bertorini, Alberto Dubrovsky, Nanette C. Joyce, Anne M. Connolly, Hanna Kolski, Lauren P. Morgenroth, Hoda Abdel-Hamid, Ksenija Gorni, Craig M. McDonald, Erik K Henricson, Erik Landfeldt, Yoram Nevo, Jose Carlo, Sherilyn W. Driscoll, Laura McAdam, S. Chidambaranathan, Paula R. Clemens, Avital Cnaan, Jean Teasley, W. Douglas Biggar, Joel Iff, Andrew J. Kornberg, Nancy L. Kuntz, E. Henricson, Jean K. Mah, Carolina Tesi-Rocha, Robert T. Leshner, Mathula Thangarajh, Richard D. Webster, V. Vishwanathan, Monique M. Ryan, John B. Bodensteiner, Timothy Lotze, Richard T. Abresch, Peter I. Karachunski

المصدر: Value Health

مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Adolescent, Psychometrics, Duchenne muscular dystrophy, Population, Pediatrics, Article, Quality of life, Surveys and Questionnaires, medicine, Humans, Child, education, education.field_of_study, Rasch model, business.industry, Health Policy, Public Health, Environmental and Occupational Health, medicine.disease, Muscular Dystrophy, Duchenne, Child, Preschool, Quality of Life, Physical therapy, Patient-reported outcome, business, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8Test
https://doi.org/10.1016/j.jval.2021.05.016Test