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1
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 -
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المؤلفون: Claudio Bruno, Gian Luca Vita, Jacqueline Montes, Maria Sframeli, Tina Duong, Valeria Sansone, Annalia Frongia, Mariacristina Scoto, John W. Day, Francesco Muntoni, Giorgia Coratti, Enrico Bertini, Jessica Exposito Escudero, Simona Lucibello, Marika Pane, Sonia Messina, Allan M. Glanzman, Eugenio Mercuri, Roberto De Sanctis, Elena S. Mazzone, Anna Mayhew, Laura Antonaci, Francesca Bovis, Andrés Nascimento Osorio, Matthew Civitello, Sara Carnicella, Rachel Salazar, Richard S. Finkel, Chiara Marini Bettolo, Adele D'Amico, Nathalie Goemans, Robert Muni Lofra, Darryl C. De Vivo, Marleen Van den Hauwe, Maria Carmela Pera, Evelin Milev, Amy Pasternak, Sally Dunaway Young, Emilio Albamonte, Basil T. Darras
المصدر: ANNALS OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Longitudinal study, Adolescent, Models, Neurological, Gene Dosage, Spinal Muscular Atrophies of Childhood, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Age of Onset, Child, Child, Preschool, Disease Progression, Female, Humans, Survival of Motor Neuron 2 Protein, Models, Internal medicine, medicine, Preschool, business.industry, Repeated measures design, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Neurology, Neurological, Cohort, Neurology (clinical), sma, Age of onset, business, 030217 neurology & neurosurgery, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7eff96e16ed9ca4d83cccff947b5eecTest
https://doi.org/10.1002/ana.25900Test -
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المؤلفون: Andreas Ziegler, Nathalie Goemans, Janbernd Kirschner, Eduardo F. Tizzano, Laurent Servais, Eugenio Mercuri, Thomas Sejersen, Francesco Muntoni, N. Butoianu, Anna Kostera-Pruszczyk, Jana Haberlová, W. Ludo van der Pol, Susana Quijano-Roy
المصدر: European Journal of Paediatric Neurology
مصطلحات موضوعية: medicine.medical_specialty, Consensus, Statement (logic), Recombinant Fusion Proteins, Zolgensma, Context (language use), Disease, SMN1, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Gene therapy, 0302 clinical medicine, Nusinersen, 030225 pediatrics, Onasemnogene abeparvovec, Humans, Medicine, Intensive care medicine, Biological Products, business.industry, Patient Selection, Gene replacement therapy, Infant, Genetic Therapy, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery, SMN2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07fa53855c7e4c43428df03e9da83368Test
https://doi.org/10.1016/j.ejpn.2020.07.001Test -
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المؤلفون: Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli
المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf; Electronic-eCollection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test -
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المؤلفون: Nathalie Goemans, Laëtitia Ouillade, Tina Duong, Laurent Servais, Maryam Oskoui, Claudia A. Chiriboga, Anna Mayhew, John Vissing, Juan F. Vázquez-Costa, Ros Quinlivan, Maggie C. Walter
المصدر: Journal of Neuromuscular Diseases
Walter, M C, Chiriboga, C, Duong, T, Goemans, N, Mayhew, A, Ouillade, L, Oskoui, M, Quinlivan, R, Vázquez-Costa, J F, Vissing, J & Servais, L 2021, ' Improving Care and Empowering Adults Living with SMA : A Call to Action in the New Treatment Era ', Journal of Neuromuscular Diseases, vol. 8, no. 4, pp. 543-551 . https://doi.org/10.3233/JND-200611Testمصطلحات موضوعية: Gerontology, Short Communication, Clinical Neurology, DIAGNOSIS, NUSINERSEN, PATIENT, Unmet needs, Muscular Atrophy, Spinal, TYPE-2, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Cost of Illness, Spinal Muscular Atrophy (SMA), MANAGEMENT, Humans, 030212 general & internal medicine, Disease management (health), health services, Adults living with SMA, Quality of Life (QoL), Science & Technology, Lived experience, SPINAL MUSCULAR-ATROPHY, Neurosciences, transition, Effective management, SMA, Quality Improvement, Call to action, Neurology, Action (philosophy), Burden of Disease (BoD), Neuromuscular Disease (NMD), Quality of Life, lived experience, Neurosciences & Neurology, Neurology (clinical), Patient Participation, Psychology, Life Sciences & Biomedicine, 030217 neurology & neurosurgery
وصف الملف: application/pdf; Print
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d582a0554e738995bac66b8cf9d214aTest
https://pubmed.ncbi.nlm.nih.gov/33646175Test -
6Injection site reactions after long-term subcutaneous delivery of drisapersen: a retrospective study
المصدر: Eur J Pediatr
مصطلحات موضوعية: medicine.medical_specialty, Erythema, Injections, Subcutaneous, Duchenne muscular dystrophy, Oligonucleotides, Pilot Projects, Gastroenterology, Article, 03 medical and health sciences, 0302 clinical medicine, Fibrosis, 030225 pediatrics, Internal medicine, Humans, Medicine, 030212 general & internal medicine, Child, Drisapersen, Retrospective Studies, Proteinuria, business.industry, Retrospective cohort study, Oligonucleotides, Antisense, medicine.disease, Hyperpigmentation, Injection Site Reaction, Muscular Dystrophy, Duchenne, Pediatrics, Perinatology and Child Health, Hypotrichosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce278de3448bae8fd25116642981bffTest
https://doi.org/10.1007/s00431-018-3272-1Test -
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المؤلفون: Craig M. McDonald, Kathryn R. Wagner, Erica Koenig, Jyoti Malhotra, Navid Khan, Perry B. Shieh, Promovi Trial Clinical Investigators, Baoguang Han, Hoda Z. Abdel-Hamid, Anne M. Connolly, Nathalie Goemans, Wenfei Zhang, Emma Ciafaloni, Eugenio Mercuri, Jerry R. Mendell
المصدر: Journal of Neuromuscular Diseases
مصطلحات موضوعية: Male, Research Report, 0301 basic medicine, safety, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Vital Capacity, Clinical Neurology, Eteplirsen, Morpholinos, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, treatment efficacy, Internal medicine, medicine, Humans, Muscular dystrophy, Child, Adverse effect, Science & Technology, biology, business.industry, duchenne, Neurosciences, clinical trial, Exons, medicine.disease, Duchenne, Exon skipping, Muscular Dystrophy, Duchenne, Clinical trial, AMBULATION, 030104 developmental biology, Neurology, phase 3, Mutation, Cohort, Disease Progression, biology.protein, Neurology (clinical), Neurosciences & Neurology, business, Life Sciences & Biomedicine, 030217 neurology & neurosurgery
وصف الملف: Print
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d98e1fd113eb9e7f0a3d44bbc526d535Test
https://lirias.kuleuven.be/handle/20.500.12942/706497Test -
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المؤلفون: Stefano C. Previtali, Federica Ricci, Marika Pane, Angela Berardinelli, Valeria A. Sansone, Tiziana Mongini, Claudia Brogna, Gianluca Vita, Marina Pedemonte, Eugenio Mercuri, Luisa Politano, Francesca Magri, Giorgia Coratti, Roberta Battini, Rachele Rossi, Claudio Bruno, Sonia Messina, Giacomo P. Comi, Giovanni Baranello, Elena Pegoraro, Francesca Bovis, Nathalie Goemans, Adele D’ Amico, Alessandra Ferlini, Alice Donati, Enrico Bertini, Luca Bello, Simona Lucibello, Emilio Albamonte, Marcella Neri
مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Dystrophin, chemistry.chemical_compound, Exon, 0302 clinical medicine, Belgium, Missense mutation, Longitudinal Studies, Muscular Dystrophy, Child, Genetics (clinical), Genetics, Mutation, Oxadiazoles, Nonsense mutation, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Exons, Stop codon, Settore MED/26 - NEUROLOGIA, Neurology, Italy, Codon, Nonsense, Child, Preschool, Settore BIO/18 - GENETICA, Walk Test, Frameshift mutation, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Preschool, Codon, business.industry, Duchenne, Stop+4 model, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, chemistry, Nonsense, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee30573332bc60720ccd98a49ef9a6c6Test
http://hdl.handle.net/10807/182743Test -
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المؤلفون: Monique M. Ryan, Craig Campbell, Juan J. Vílchez, Brigitte Chabrol, Panayiota Trifillis, Joseph McIntosh, Mar Tulinius, Eugenio Mercuri, Stuart W. Peltz, Kristi J. Jones, Yann Péreón, Basil T. Darras, Thomas Sejersen, Giacomo P. Comi, Kathryn Selby, Jean K. Mah, Marcio Souza, Enrico Bertini, Thomas Voit, Brenda L. Wong, Nathalie Goemans, Francesco Muntoni, Ulrike Schara, Jacinda B. Sampson, Susan T. Iannaccone, Gary Elfring, Janbernd Kirschner, Craig M. McDonald, Yoram Nevo, Lee-Jen Wei, Richard S. Finkel, J. Ben Renfroe, Katherine D. Mathews, Richard J. Barohn, Kevin M. Flanigan
المصدر: Paediatrics Publications
مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Nonsense mutation, efficacy, MULTICENTER, Medizin, Placebo, law.invention, Efficacy, 03 medical and health sciences, chemistry.chemical_compound, 6-MINUTE WALK TEST, 0302 clinical medicine, Randomized controlled trial, law, Internal medicine, END-POINTS, medicine, Humans, Muscular Dystrophy, Muscular dystrophy, Codon, 030304 developmental biology, Randomized Controlled Trials as Topic, 0303 health sciences, Oxadiazoles, Science & Technology, business.industry, Health Policy, ataluren, medicine.disease, Duchenne, Ataluren, Muscular Dystrophy, Duchenne, 6-minute walk distance, Health Care Sciences & Services, chemistry, Nonsense, meta-analyses, Codon, Nonsense, Ambulatory, randomized controlled trials, business, Life Sciences & Biomedicine, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::921c77381755297d0bab3f2e9a88f720Test
https://pubmed.ncbi.nlm.nih.gov/32851872Test -
10
المؤلفون: Nathalie Goemans, Brenda Wong, Marleen Van den Hauwe, James Signorovitch, Gautam Sajeev, David Cox, John Landry, Madeline Jenkins, Ibrahima Dieye, Zhiwen Yao, Intekhab Hossain, Susan J Ward, Collaborative Trajectory Analysis Project (cTAP)
المصدر: PLoS ONE, Vol 15, Iss 6, p e0232870 (2020)
PLoS ONEمصطلحات موضوعية: 0301 basic medicine, Male, Heredity, Physiology, Genetic Linkage, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, 030105 genetics & heredity, Pediatrics, Muscular Dystrophies, DISEASE, law.invention, Tadalafil, Efficacy, 0302 clinical medicine, Randomized controlled trial, DESIGN, law, Medicine and Health Sciences, Medicine, Child, Multidisciplinary, Organic Compounds, Prognosis, Phase III clinical investigation, Multidisciplinary Sciences, Chemistry, Neurology, Neuromuscular Agents, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Science & Technology - Other Topics, Steroids, TRIAL, Research Article, medicine.medical_specialty, Drug Research and Development, Adolescent, Science, ATALUREN, Placebo, Research and Analysis Methods, 03 medical and health sciences, DRISAPERSEN, Diagnostic Medicine, Genetics, Humans, Clinical Trials, Computer Simulation, Clinical Genetics, Pharmacology, Science & Technology, business.industry, Biological Locomotion, Clinical study design, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, Sample size determination, Sample Size, Physical therapy, Exercise Test, Clinical Medicine, business, 030217 neurology & neurosurgery, Follow-Up Studies
وصف الملف: Electronic-eCollection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c05aa276ab26d60ebede754c9790ea90Test
https://lirias.kuleuven.be/handle/20.500.12942/704020Test