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: 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: Wildon Farwell, Francesco Muntoni, Nathalie Goemans, Hanns Lochmüller, Petra Wilson, David Evans, Richard S. Finkel, Marie-Christine Ouillade, Vitaliy Matyushenko, Mencia de Lemus, Inge Schwersenz

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: 0301 basic medicine, Position statement, medicine.medical_specialty, Biomedical Research, MEDLINE, Information Dissemination, 030105 genetics & heredity, Outcome assessment, Spinal Muscular Atrophies of Childhood, 03 medical and health sciences, 0302 clinical medicine, Text mining, Physical medicine and rehabilitation, Rare Diseases, Health care, Outcome Assessment, Health Care, Medicine, Humans, Family, Registries, business.industry, Community Participation, Spinal muscular atrophy, medicine.disease, Clinical research, Neurology, Commentary, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fae402ff34f4bad3f13732af957742d9Test
http://europepmc.org/articles/PMC6004907Test

المؤلفون: Claude Cances, Jean-Marie Cuisset, Linda Lowes, Vincent Laugel, Laurent Servais, Teresa Gidaro, A. Chabanon, M. Annoussamy, Ulrike Schara, A. Daron, Omar Khwaja, Carole Vuillerot, Ricardo Hermosilla, J.Y. Hogrel, Andreea Mihaela Seferian, Nathalie Goemans, E. Gargaun, Yann Péréon, Pierre G. Carlier, Christian Czech

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Longitudinal data, business.industry, Medizin, Spinal muscular atrophy, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32f79ed98b454a8bf35ac11bd212b4f2Test

المؤلفون: C. Pfister, Giovanni Baranello, A. Hartmann, R. Roubenoff, M. de Raspide, J. Praestgaard, Lawrence Charnas, Ulrike Schara, A. Born, E. Voltz, Nicolas Deconinck, Nathalie Goemans, T. Peters, C. Berghs-Clairmont, E. Bertini

المصدر: Neuromuscular Disorders. 27:S207-S208

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Pathology, business.industry, Medizin, Spinal muscular atrophy, First in human, medicine.disease, SMA, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Internal medicine, Interim, Pediatrics, Perinatology and Child Health, Medicine, splice, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b009ab66203ad8d490f8bcad71fc09e2Test
https://doi.org/10.1016/j.nmd.2017.06.411Test

المؤلفون: Omar Khwaja, Eugenio Mercuri, H. Abdallah, Giovanni Baranello, Maria Carmela Pera, Janbernd Kirschner, Christian Czech, Nathalie Goemans, L. Servais, G. Armstrong, L. Mueller, Ksenija Gorni, Heidemarie Kletzl, S. Sturm, T. Seabrook, Anne Marquet, D. Kraus

المصدر: Neuromuscular Disorders. 27:S209

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Spinal muscular atrophy, medicine.disease, Surgery, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, In patient, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::352d44eb117b17bb0bf47ee7aa2c57fdTest
https://doi.org/10.1016/j.nmd.2017.06.415Test

المؤلفون: A. Gangfuss, M. Villeret, E. Gargaun, Yann Péréon, Jean-Marie Cuisset, Laurent Servais, Anne Marquet, A. Phelep, Vincent Laugel, A. Daron, Nathalie Goemans, Carole Vuillerot, A. Chabanon, S. Fontaine, Teresa Gidaro, L. De Waele, M. Annoussamy, Claude Cances, Ulrike Schara

المصدر: Neuromuscular Disorders. 26:S103

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Medizin, Spinal muscular atrophy, Baseline data, 030105 genetics & heredity, SMA, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da2b66a7643ba85965ef3e1719760429Test
https://doi.org/10.1016/j.nmd.2016.06.066Test

المؤلفون: Adele D'Amico, Serena Sivo, Mariacristina Scoto, Nathalie Goemans, Maria Pia Sormani, Rachel Salazar, Janet Quigley, Gian Luca Vita, Jacqueline Montes, Francesco Muntoni, Richard S. Finkel, Eugenio Mercuri, Petra Kaufmann, Sonia Messina, Enrico Bertini, Marika Pane, Danielle Ramsey, Darryl C. De Vivo, Maria Carmela Pera, Amy Pasternak, Allan M. Glanzman, Elena S. Mazzone, Anna Mayhew, Maria Sframeli, Marion Main, Sally Dunaway, Basil T. Darras, Marleen Van den Hauwe

المصدر: ResearcherID
Neuromuscular Disorders

مصطلحات موضوعية: 0301 basic medicine, Male, Hammersmith Functional Motor Scale, Outcome measures, Spinal muscular atrophy, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Neurology, 030105 genetics & heredity, Spinal Muscular Atrophies of Childhood, Pediatrics, 0302 clinical medicine, Adolescent, Adult, Child, Child, Preschool, Clinical Trials as Topic, Female, Humans, Middle Aged, Retrospective Studies, Young Adult, Disease Progression, Mobility Limitation, Medicine, Genetics(clinical), Young adult, Baseline values, Perinatology and Child Health, SMA, medicine.medical_specialty, Clinical Neurology, Article, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Age groups, Internal medicine, Pediatrics, Perinatology, and Child Health, Preschool, business.industry, Disease progression, Retrospective cohort study, Large cohort, Clinical trial, Physical therapy, business, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de36f9185eac12b7798ae31114a395fTest
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000371652100002&KeyUID=WOS:000371652100002Test