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: 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 Déu

مصطلحات 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

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

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-200611Test

مصطلحات 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

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

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

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: Marika Pane, Eugenio Mercuri, Marina Pedemonte, Darryl C. De Vivo, Richard S. Finkel, Sonia Messina, Maria Carmela Pera, Simona Lucibello, Amy Pasternak, Sally Dunaway Young, Nathalie Goemans, Giorgia Coratti, Jacqueline Montes, Francesco Muntoni, Enrico Bertini, Andres Nascimiento Osorio, Allan M. Glanzman, Anna Mayhew, Mariacristina Scoto, Valeria Sansone

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Hammersmith functional motor scale expanded, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Baseline values, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Age Factors, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, Neuromuscular disorders, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Diabetes Mellitus, Type 2, Relative risk, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe3f81c5c04817c81c6e3c85c3aaa64Test
http://hdl.handle.net/11570/3189921Test

المؤلفون: J. Andoni Urtizberea, María L. Cuadrado, Isabelle Desguerre, Emmanuelle Lagrue, Michel Fardeau, Carsten G. Bönnemann, Ulrike Reuner, Haluk Topaloglu, Beate Schlotter-Weigel, Susana Quijano-Roy, Maja von der Hagen, Rocio N. Villar-Quiles, Sandra Donkervoort, Denys Chaigne, Nathalie Goemans, Michèle Mayer, Norma B. Romero, Ekkehard Wilichowski, Jaume Colomer, Brigitte Estournet, Corinne Metay, Ulrike Schara, M Stoetter, Pascale Richard, Edoardo Malfatti, Angela M. Kaindl, Ana Ferreiro, David Orlikowski, Anneke van der Kooi, Marianne de Visser, Luciano Merlini, E. Bertini, Jürg Lütschg, Bruno Eymard, Volker Straub, C. Castiglioni, Mustafa A. Salih, Victoria Gonzalez

المساهمون: Neurology, ANS - Neuroinfection & -inflammation

المصدر: Neurology, 95(11), e1512-e1527. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Medizin, Retrospective cohort study, Scoliosis, medicine.disease, 3. Good health, Ophthalmoparesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Respiratory failure, Internal medicine, Biopsy, Medicine, Neurology (clinical), Young adult, medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6630144f5805a5d3daa9c0a2ffd7dfbTest
https://www.ncbi.nlm.nih.gov/pubmed/32796131Test

المؤلفون: Raffaella Willmann, Filippo Buccella, Annamaria De Luca, Miranda D. Grounds, Jenny Versnel, Elizabeth Vroom, Diana Ribeiro, Anna Ambrosini, Grace Pavlath, John Porter, Gustavo Dziewczapolski, Victor Dubowitz, Hanns Lochmüller, Kevin Campbell, Kay Davies, Kevin A. Roth, Alejandra Clark, Emilio Clementi, Kanneboyina Nagaraju, Nathalie Goemans, Volker Straub, Andrea Klein, Annemieke Aartsma-Rus, Miranda Grounds, Maaike van Putten, Maria Fries, Maria Sheean, Jon Tinsley, Mahasweta Girgenrath

المصدر: Neuromuscular Disorders. 28:185-192

مصطلحات موضوعية: 0301 basic medicine, Medical education, business.industry, media_common.quotation_subject, MEDLINE, Translational research, Plan (drawing), 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Quality (business), Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f03e416677af67eafebc76bed006212eTest
https://doi.org/10.1016/j.nmd.2017.11.002Test