المؤلفون: Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: spinal muscular atrophy, preterm, newborn screening, gene therapy, Zolgensma, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1230889/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/0ef9cd25f9a44b1b9fee6b56324a1d81Test

المؤلفون: Hugh McMillan J, Sarah Grace Buttle, Jorge Davila, Julia Bokhaut, Tom Kovesi, Sherri Katz, Refika Ersu

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ab26dfa71aaadb1b6fa90ea1819580a1Test
https://doi.org/10.22541/au.168017414.46633155/v1Test

المؤلفون: Anna Liu, Melissa Duffy, Sandy Tse, Marc Zucker, Hugh McMillan, Patrick Weldon, Julie Quet, Michelle Long

مصطلحات موضوعية: General Medicine, Education

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f3bd0f1c411dd5840f6a412606fd4Test

المؤلفون: J, Hugh McMillan, Buttle, Sarah Grace, Davila, Jorge, Bokhaut, Julia, Kovesi, Tom, Katz, Sherri, Ersu, Refika

الإتاحة: https://doi.org/10.22541/au.168017414.46633155/v1Test

المؤلفون: Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun (Helen) Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Benedicte Gerard, Emmanuelle Ginglinger, Julie Richer, Hugh McMillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A. Bernier, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle M. Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo

المساهمون: Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Jia, Xiangbin, Zhang, Shujie, Tan, Senwei, Du, Bing, He, Mei, Qin, Haisong, Chen, Jia, Duan, Xinyu, Luo, Jingsi, Chen, Fei, Ouyang, Luping, Wang, Jian, Chen, Guodong, Yu, Bin, Zhang, Ge, Zhang, Zimin, Lyu, Yongqing, Huang, Yi, Jiao, Jian, Chen, Jin Yun Helen, Swoboda, Kathryn J, Agolini, Emanuele, Novelli, Antonio, Leoni, Chiara, Zampino, Giuseppe, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Gerard, Benedicte, Ginglinger, Emmanuelle, Richer, Julie, Mcmillan, Hugh, White-Brown, Alexandre, Hoekzema, Kendra, Bernier, Raphael A, Kurtz-Nelson, Evangeline C, Earl, Rachel K, Meddens, Claartje, Alders, Marielle, Fuchs, Meredith, Caumes, Roseline, Brunelle, Perrine, Smol, Thoma, Kuehl, Ryan, Day-Salvatore, Debra-Lynn, Monaghan, Kristin G, Morrow, Michelle M, Eichler, Evan E, Hu, Zhengmao, Yuan, Ling, Tan, Jieqiong, Xia, Kun, Shen, Yiping, Guo, Hui

المصدر: Science advances, 8(33):eabo7112. American Association for the Advancement of Science

مصطلحات موضوعية: Multidisciplinary, Animal, DNA Helicases, RNA Helicase, DNA Helicase, Stress Granule, Stress Granules, Mice, RNA Recognition Motif Proteins, Neurodevelopmental Disorders, RNA Recognition Motif Protein, Animals, Poly-ADP-Ribose Binding Proteins, RNA Helicases, Poly-ADP-Ribose Binding Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6ee0a0b2e7c1dd27774edf6d5fa7b9Test
https://pure.amc.nl/en/publications/de-novo-variants-in-genes-regulating-stress-granule-assembly-associate-with-neurodevelopmental-disordersTest(a5d812f0-5775-4504-a0d6-daa55fcbd6c9).html

المؤلفون: Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba

المصدر: Neuromuscular Disorders. 31:574-582

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Context (language use), Disease, Muscular Atrophy, Spinal, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Surveys and Questionnaires, medicine, Screening method, Humans, Genetics (clinical), Newborn screening, business.industry, Infant, Newborn, food and beverages, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Neurology, Family medicine, embryonic structures, Pediatrics, Perinatology and Child Health, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4326212589673e2738fb522e0247b3f2Test
https://doi.org/10.1016/j.nmd.2021.03.007Test

المؤلفون: Megan Barry, Dwight Barry, Akash P. Kansagra, Danial Hallam, Michael Abraham, Catherine Amlie-Lefond, Timothy Bernard, Noma Dlaimini, Michael Dowling, Ryan Felling, Eric Grabowski, Rebecca Ichord, Lori Jordan, Adam Kirton, Sarah Lee, Mark Mackay, Hugh McMillan, Michael J. Rivkin

المصدر: Stroke. 52:1213-1221

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Cohort Studies, medicine, Humans, Child, Intensive care medicine, Stroke, Retrospective Studies, Thrombectomy, Advanced and Specialized Nursing, business.industry, Data Collection, Infant, Publication bias, Odds ratio, Childhood stroke, medicine.disease, Mechanical thrombectomy, Treatment Outcome, Research Design, Child, Preschool, Data quality, Female, Neurology (clinical), Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c526f45db391e885f73d33ebfafdb9cTest
https://doi.org/10.1161/strokeaha.120.032009Test

المؤلفون: Hugh McMillan

نوع المادة: eBook.

تصنيفات: HISTORY / General

المؤلفون: Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Hoda, Abdel-Hamid, Susan, Apkon, Richard, Barohn, Elena, Belousova, Enrico, Bertini, John, Brandsema, Claudio, Bruno, William, Burnette, Russell, Butterfield, Barry, Byrne, Craig, Campbell, Jose, Carlo, Jong-Hee, Chae, Saleel, Chandratre, Giacomo, Comi, Anne, Connolly, Imelda De Groot, Nicolas, Deconinck, Joseph, Dooley, Alberto, Dubrovsky, Julien, Durigneux, Erika, Finanger, Richard, Finkel, L Matthew Frank, Nathalie, Goemans, Amy, Harper, Ayako, Hattori, Ozlem, Herguner, Susan, Iannaccone, Joanne, Janas, Yuh-Jyh, Jong, Janberd, Kirschner, Hirofumi, Komaki, Nancy, Kuntz, Wang-Tso, Lee, Edward, Leung, Jean, Mah, Katherine, Mathews, Craig, Mcdonald, Eugenio, Mercuri, Hugh, Mcmillan, Wolfgang, Mueller-Felber, Adolfo Lopez de Munain, Akinori, Nakamura, Erik, Niks, Katsuhisa, Ogata, Samuel, Pascual, Pegoraro, Elena, Yann, Pereon, Ben, Renfroe, Ratna Bhavaraju Sanka, Jens, Schallner, Ulrike, Schara, Kathryn, Selby, Isabel Illa Sendra, Laurent, Servais, Edward, Smith, Susan, Sparks, Haluk, Topaloglu, Ron, Victor, Juan Jose Vilchez, Matthew, Wicklund, Ekkehard, Wilichoswki, Brenda, Wong

المساهمون: L, Servais., Çocuk Sağlığı ve Hastalıkları, Schara, Ulrike (Beitragende*r)

المصدر: Neurology, vol 89, iss 17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17

مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, Vasodilator Agents, International Cooperation, Left, Medizin, Placebo-controlled study, Walking, Ventricular Function, Left, law.invention, Pulmonary function testing, Tadalafil, Efficacy, 0302 clinical medicine, Randomized controlled trial, law, Heart Rate, Ventricular Function, Muscular Dystrophy, Child, Pediatric, Sciences bio-médicales et agricoles, 3. Good health, Respiratory Function Tests, Treatment Outcome, Area Under Curve, 6.1 Pharmaceuticals, Ambulatory, Cognitive Sciences, Walking -- physiology, Drug, medicine.drug, musculoskeletal diseases, Duchenne/ Becker Muscular Dystrophy, medicine.medical_specialty, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Trials and Supportive Activities, Clinical Sciences, Vasodilator Agents -- therapeutic use, Tadalafil -- therapeutic use, Placebo, Article, Dose-Response Relationship, 03 medical and health sciences, Rare Diseases, Double-Blind Method, Clinical Research, Internal medicine, medicine, Heart Rate -- physiology, Humans, Glucocorticoids, Neurology & Neurosurgery, Dose-Response Relationship, Drug, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, medicine.disease, Duchenne, Glucocorticoids -- therapeutic use, Tadalafil DMD Study Group, Brain Disorders, Muscular Dystrophy, Duchenne, 030104 developmental biology, Musculoskeletal, Muscular Dystrophy, Duchenne -- drug therapy -- psychology, Quality of Life, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf; Print-Electronic; text/plain; 2 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0e6503a882dfb553f43c58e0475c30Test
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221cTest

المؤلفون: Leanne M. Ward, Kathi Kinnett, Lynda Bonewald, Jonathan D. Adachi, Laura Bachrach, Teresita Bellido, Marco Brotto, Joanne Donovan, Eric Hoffman, Mary Leonard, Hugh McMillan, Susan Novotny, Jill Rafael-Fortney, Frank Rauch, Leanne Ward, Stuart Warden

المصدر: Neuromuscular Disorders. 28:64-76

مصطلحات موضوعية: medicine.medical_specialty, Extramural, business.industry, Duchenne muscular dystrophy, Osteoporosis, MEDLINE, 030209 endocrinology & metabolism, medicine.disease, Bone health, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Neurology (clinical), Muscular dystrophy, business, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bd17600dc4ce9f26954936f83ed47aa5Test
https://doi.org/10.1016/j.nmd.2017.05.012Test