المؤلفون: Werner Poewe, Sandrina Weber, Andres O. Ceballos-Baumann, Roberto Colombo, Michael Messner, Juliane Winkelmann, Joerg Mueller, Barbara Schormair, Christian Lunetta, Bernhard Haslinger, Sylvia Boesch, Tim M. Strom, Thomas Wieland, Tobias Meindl, Angela Jochim, Michael Zech, Valeria A. Sansone

المصدر: Movement Disorders. 32:549-559

مصطلحات موضوعية: 0301 basic medicine, Dystonia, Genetics, ADCY5, Cosegregation, Genetic heterogeneity, Biology, medicine.disease, Phenotype, Genetic architecture, nervous system diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Locus heterogeneity, medicine, Neurology (clinical), 030217 neurology & neurosurgery, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0761a2dc3f365ce9475ff0ca8cc7dc2bTest
https://doi.org/10.1002/mds.26808Test

المؤلفون: Giovanni Baranello, Silvia Vai, Gianluca Vita, Valeria Sansone Sansone, Francesca Broggi, Grazia D'Angelo, Marika Pane, Maria Luisa Bianchi

المصدر: Bone Abstracts.

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, medicine, General Medicine, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5243e453d16ce5cc1ba662f3cf0a30b2Test
https://doi.org/10.1530/boneabs.7.p28Test

المؤلفون: Ingeborg Meijer, Hanns Lochmüller, Ros Quinlivan, George W. Padberg, Aad Tibben, Alexandre Méjat, Anna Ambrosini, Alexandra Breukel, Guus Schrijvers, Valeria A. Sansone, Raffaella Willmann, Michal Rataj, Maarten de Wit, Ellen Sterrenburg

المساهمون: Goemans, Nathalie, Ethics, Law & Medical humanities, Schara, Ulrike (Beitragende*r)

المصدر: Ambrosini, A, Quinlivan, R, Sansone, V A, Meijer, I, Schrijvers, G, Tibben, A, Padberg, G, De Wit, M, Sterrenburg, E, Mejat, A, Breukel, A, Rataj, M, Lochmüller, H, Willmann, R & 235th ENMC workshop study group 2019, ' "be an ambassador for change that you would like to see" : A call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 126 . https://doi.org/10.1186/s13023-019-1103-8Test
Orphanet Journal of Rare Diseases, 14, e126
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Orphanet Journal of Rare Diseases, 14(1):126. BioMed Central

مصطلحات موضوعية: 0301 basic medicine, PATIENT PARTICIPATION, INVOLVEMENT, Biomedical Research, Decision Making, Medizin, Patient engagement, lcsh:Medicine, 030105 genetics & heredity, Research & Experimental Medicine, Marketing authorization, DIAGNOSIS, DUCHENNE MUSCULAR-DYSTROPHY, 03 medical and health sciences, 0302 clinical medicine, Cultural diversity, Health care, Co-creation, MANAGEMENT, Humans, Pharmacology (medical), Patient involvement, Genetics (clinical), Genetics & Heredity, Medical education, Science & Technology, business.industry, RESEARCH-AND-DEVELOPMENT, Research, lcsh:R, Healthcare, General Medicine, Biobank, Call to action, MODEL, Neuromuscular diseases, Medicine, Research & Experimental, General partnership, Quality of Life, Patient-reported outcome, Psychology, business, SHARED DECISION-MAKING, RARE DISEASES, FOLLOW-UP, Life Sciences & Biomedicine, 030217 neurology & neurosurgery

وصف الملف: Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe7ea9d22ab755d69e4bee38034b7bcTest
https://research.vumc.nl/en/publications/082020f2-e0cc-44c3-90d2-fbc2c696ac19Test

المؤلفون: Giancarlo, Garuti, Fabrizio, Rao, Viviana, Ribuffo, Valeria A, Sansone

المصدر: Degenerative Neurological and Neuromuscular Disease

مصطلحات موضوعية: amyotrophic lateral sclerosis, radiotherapy salivary gland, Review, botulinum toxin, anticholinergic drug, sialorrhea

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::13527a39ba1049df8f2702be10306490Test
https://pubmed.ncbi.nlm.nih.gov/31118868Test

المؤلفون: Francesca, Trojsi, Mattia, Siciliano, Cinzia, Femiano, Gabriella, Santangelo, Christian, Lunetta, Andrea, Calvo, Cristina, Moglia, Kalliopi, Marinou, Nicola, Ticozzi, Christian, Ferro, Carlo, Scialò, Gianni, Sorarù, Amelia, Conte, Yuri M, Falzone, Rosanna, Tortelli, Massimo, Russo, Valeria Ada, Sansone, Adriano, Chiò, Gabriele, Mora, Vincenzo, Silani, Paolo, Volanti, Claudia, Caponnetto, Giorgia, Querin, Mario, Sabatelli, Nilo, Riva, Giancarlo, Logroscino, Sonia, Messina, Antonio, Fasano, Maria Rosaria, Monsurrò, Gioacchino, Tedeschi, Jessica, Mandrioli

المصدر: Frontiers in Neuroscience

مصطلحات موضوعية: C9orf72 expansion, amyotrophic lateral sclerosis, comorbidity, gender, survival, Neuroscience, Original Research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d4f4c6e3fbd38b11db14967e8a38797dTest
https://pubmed.ncbi.nlm.nih.gov/31156370Test

المؤلفون: Matthew R. Avenarius, Jennifer S Roggenbuck, Abdurrahman W. Muhtaseb, Flávia C. Nery, Pamela J. Snyder, John T. Kissel, Kathryn J. Swoboda, Pann H. Nwe, Vicki L. McGovern, Thomas W. Prior, Arthur H.M. Burghes, Ren Z Zhang, Jennifer J. Siranosian, Alec J. Johnstone, Valeria A. Sansone, Corey Ruhno

مصطلحات موضوعية: Candidate gene, Genetic Linkage, Gene Dosage, Inheritance Patterns, SMN1, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Gene Frequency, Genetics, medicine, Humans, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, 030305 genetics & heredity, Intron, Computational Biology, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Molecular biology, Survival of Motor Neuron 1 Protein, nervous system diseases, Pedigree, Survival of Motor Neuron 2 Protein, Phenotype, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3257448dc926ad825225c043d2c0793Test
https://europepmc.org/articles/PMC6503527Test/

المؤلفون: Michela Catteruccia, Giuseppe Vita, Eugenio Mercuri, Chiara Bravetti, Beatrice Berti, Sonia Messina, Paola Tacchetti, Adele D'Amico, Valeria A. Sansone, Marco Piastra, Marina Pedemonte, Enrico Bertini, Claudio Bruno, Marika Pane, Roberto De Sanctis, Francesca Salmin, Giorgia Brigati, Maria Sframeli, Simona Lucibello, Giorgia Coratti, Emilio Albamonte, Francesco Danilo Tiziano, Orazio Genovese

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Oligonucleotides, CHOP, Spinal Muscular Atrophies of Childhood, Settore MED/03 - GENETICA MEDICA, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Severity of illness, medicine, Humans, In patient, Child, spinal muscular atrophy, Type I Spinal Muscular Atrophy, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Spinal muscular atrophy, nusinersen, CHOP INTEND, real world, Survival of Motor Neuron 2 Protein, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Cohort, Nusinersen, Female, Neurology (clinical), business, Real world data, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09fe5a00f540abc0e7a2bf551663d35eTest
http://hdl.handle.net/11570/3142754Test

المؤلفون: Sally Dunaway Young, Valeria A. Sansone, Matthew Civitello, Maria Carmela Pera, Giorgia Coratti, Amy Pasternack, Susan A. Hall, Rachel Salazar, Eugenio Mercuri, Laura Antonaci, Claudio Bruno, Jacqueline Montes, Mariacristina Scoto, Emilio Albamonte, Susan Eaton, Concetta Palermo, Salma Samsuddin, Adele D'Amico, Tina Duong, Roberto De Sanctis, Basil T. Darras, Annalia Frongia, Francesco Muntoni, Aisha Rashid, Richard S. Finkel, Enrico Bertini, Darryl C. De Vivo, Maria Sframeli, Allan Glanzmann, Giuseppe Vita, Beatrice Berti, Sonia Messina, Julia Balashkina, John W. Day, Daniela Leone, Marika Pane

مصطلحات موضوعية: 0301 basic medicine, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Disease registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Prospective Studies, Registries, Genetics (clinical), Final version, Medical education, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Research, Neuromuscular disorders, Spinal muscular atrophy, Data dictionary, United Kingdom, Identification (information), Muscular Atrophy, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Italy, General partnership, New disease, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), Business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cec70572d78f4eea3195e9db7ac087Test
http://hdl.handle.net/10807/215447Test

المؤلفون: Irene Malberti, Stefania Bona, Valeria A. Sansone, Christian Lunetta, Federica Cozza, Lucia Greco, Giordana Donvito, Elena Carraro, Paolo Vaccari, Andrea Lizio

مصطلحات موضوعية: 030506 rehabilitation, medicine.medical_specialty, media_common.quotation_subject, Biomedical Engineering, Physical Therapy, Sports Therapy and Rehabilitation, Pilot Projects, 03 medical and health sciences, Speech and Hearing, 0302 clinical medicine, Wheelchair, Acquired immunodeficiency syndrome (AIDS), Medicine, Humans, Orthopedics and Sports Medicine, Competence (human resources), media_common, Augmented Reality, business.industry, Rehabilitation, Amyotrophic Lateral Sclerosis, Usability, Caregiver burden, Trial Phase, medicine.disease, Caregivers, Wheelchairs, Physical therapy, Quality of Life, 0305 other medical science, business, Psychosocial, 030217 neurology & neurosurgery, Autonomy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e23e391824dfba5a15d44e172a92816Test

المؤلفون: Adele D'Amico, Giulia Colia, Giulia Norcia, Adnan Y. Manzur, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Marika Pane, Gian Luca Vita, Anne M. Connolly, Enrico Bertini, Terri Carry, Francesco Muntoni, Maria Teresa Arnoldi, Valeria Ricotti, Giovanni Baranello, Francesca Salmin, Simona Lucibello, Angela Berardinelli, Emilio Albamonte, Julie A. Parsons, Alice Gardani, Lianne Abbott, Giorgia Coratti, Sonia Messina, Marion Main

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Duchenne muscular dystrophy, Severity of Illness Index, 03 medical and health sciences, Outcome measure, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Duchenne Muscular dystrophy, Neuromuscular disorders, North Star Ambulatory Assessment, Outcome measure, Adrenal Cortex Hormones, Outcome Assessment, Health Care, medicine, North Star Ambulatory Assessment, Humans, Prospective Studies, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Disease progression, Assessment scale, medicine.disease, Natural history, Muscular Dystrophy, Duchenne, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Neuromuscular Agents, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Disease Progression, Multiple linear regression analysis, Neurology (clinical), business, Superior Sagittal Sinus, Duchenne Muscular dystrophy, 030217 neurology & neurosurgery, Neuromuscular disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fe9af31cba2112b8b51a6b78350ce8Test
http://hdl.handle.net/10807/182742Test