المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test

المؤلفون: Gabriele Siciliano, Carmelo Chisari, Sonia Messina, Giovanni Iolascon, Antimo Moretti, Valeria A. Sansone, Tiziana Mongini, Michele Vitacca, Antonio Toscano, Elena Carraro, Pietro Fiore

المساهمون: Iolascon, Giovanni, Vitacca, Michele, Carraro, Elena, Chisari, Carmelo, Fiore, Pietro, Messina, Sonia, Mongini, Tiziana, Moretti, Antimo, Sansone, Valeria A, Toscano, Antonio, Siciliano, Gabriele

المصدر: Neurological Sciences. 41:859-868

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neurology, Adolescent, medicine.medical_treatment, Therapeutic exercise, Dermatology, Disease, Breathing Exercises, Adapted physical activity, Glycogen storage disease type II, ICF, Pompe disease, Rehabilitation, Age of Onset, Bicycling, Child, Clinical Protocols, Exercise Therapy, Glycogen Storage Disease Type II, Humans, Muscle Stretching Exercises, Muscular Diseases, Resistance Training, Exercise, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Quality of life, Medicine, Aerobic exercise, Pulmonary rehabilitation, 030212 general & internal medicine, business.industry, General Medicine, Psychiatry and Mental health, Neurology (clinical), Neurosurgery, Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f64920c1d3a757eeb197830844621Test
https://doi.org/10.1007/s10072-019-04178-7Test

المؤلفون: Beatrice Bobba, Andrea Lizio, Jacopo Casiraghi, Emilio Albamonte, Carolina Cardella, Elena Carraro, Susanna Pozzi, Valeria A. Sansone, Christian Lunetta

المساهمون: Carraro E., Casiraghi J.L., Bobba B., Lizio A., Cardella C., Albamonte E., Lunetta C., Pozzi S., Sansone V.A.

المصدر: PMR : the journal of injury, function, and rehabilitationREFERENCES. 14(12)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neuromuscular disease, Adolescent, Physical Therapy, Sports Therapy and Rehabilitation, Young Adult, Wheelchair, Primary outcome, Physical ability, Quality of life, medicine, Humans, Association (psychology), business.industry, Rehabilitation, Outcome measures, Neuromuscular Diseases, medicine.disease, Cross-Sectional Studies, Neurology, Hockey, Wheelchairs, Well-being, Adaptive sports, adaptive athletes, Neuromuscular Diseases, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, quality of life, health status, Physical therapy, Quality of Life, Neurology (clinical), business, human activities

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac12c32472f7c94df67883ca12498071Test
https://pubmed.ncbi.nlm.nih.gov/34773450Test

المؤلفون: Gloria, Ferrantini, Giorgia, Coratti, Roberta, Onesimo, Simona, Lucibello, Sarah, Bompard, Ida, Turrini, Graziamaria, Cicala, Michela, Caprarelli, Maria Carmela, Pera, Chiara, Bravetti, Beatrice, Berti, Valentina, Giorgio, Claudio, Bruno, Noemi, Brolatti, Chiara, Panicucci, Adele, D'Amico, Antonella, Longo, Chiara, Leoni, Valeria A, Sansone, Emilio, Albamonte, Sonia, Messina, Maria, Sframeli, Enrico, Bertini, Marika, Pane, Eugenio, Mercuri

المصدر: European journal of pediatrics. 181(5)

مصطلحات موضوعية: Adult, Spinal, Adolescent, Body Mass Index, Muscular Atrophy, Spinal, Young Adult, Neonate, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Nutritional status, Humans, Longitudinal Studies, Preschool, Child, Children, Retrospective Studies, Body Weight, Infant, Newborn, Infant, Spinal muscular atrophy, Newborn, Muscular Atrophy, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d5614481d28dbde1c8ae8b2533f2f1Test
https://pubmed.ncbi.nlm.nih.gov/35048179Test

المؤلفون: Michael Hunter, Elizabeth Luebbe, Christine Zizzi, Craig M. Zaidman, Emma Ciafaloni, Valeria A. Sansone, Nicholas E. Johnson, Phillip Mongiovi, Nuran Dilek, Connie Garland, Chad Heatwole, Michael P. McDermott, John T. Kissel

المصدر: MusclenerveREFERENCES. 63(6)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Physiology, Intraclass correlation, Disease, 030105 genetics & heredity, Severity of Illness Index, Muscular Atrophy, Spinal, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Cronbach's alpha, Quality of life, Physiology (medical), medicine, Humans, Patient Reported Outcome Measures, Disease burden, Reliability (statistics), Aged, business.industry, Spinal muscular atrophy, Middle Aged, SMA, medicine.disease, Cross-Sectional Studies, Physical therapy, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ce4d21813b3a9799551b1f25d815d3Test
https://pubmed.ncbi.nlm.nih.gov/33711174Test

المؤلفون: Guja Astrea, Kiera Berggren, Jennifer N. Baldwin, Francesca Salmin, Kameron Bates, Nicholas E. Johnson, Jacopo Casiraghi, Kellen H. Quigg, Joshua Burns, Federica Ricci, Adele DʼAmico, Melissa McIntyre, Marnee J. McKay, Craig Campbell, Valeria A. Sansone

المصدر: Paediatrics Publications
Muscle Nerve

مصطلحات موضوعية: Male, 0301 basic medicine, Physiology, Functional testing, mobility measures, 030105 genetics & heredity, Grip strength, Child Development, 0302 clinical medicine, Activities of Daily Living, Myotonic Dystrophy, Child, education.field_of_study, Communication, Motor Skills, Child, Preschool, Cohort, Disease Progression, Female, Six Minute Walk Test, Cohort study, medicine.medical_specialty, Adolescent, congenital myotonic dystrophy, functional outcomes, myotonic dystrophy, Population, Walk Test, Article, Myotonin-Protein Kinase, 03 medical and health sciences, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Humans, Muscle Strength, Social Behavior, education, business.industry, Infant, Newborn, Infant, Vineland Adaptive Behavior Scale, Clinical trial, Physical therapy, Observational study, Neurology (clinical), Trinucleotide Repeat Expansion, business, human activities, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecefca0967ee8b41a6b80aa26df57b6Test
https://ir.lib.uwo.ca/paedpub/1436Test

المؤلفون: Valeria A, Sansone, Emilio, Albamonte, Francesca, Salmin, Jacopo, Casiraghi, Alice, Pirola, Massimo, Bettinelli, Fabrizio, Rao, Luca, Mancini, Nicola, Tovaglieri, Fausto, Fedeli, Paolo, Stoia, Maurizio, Heinen, Valeria, Cozzi, Elena, Carraro, Christian, Lunetta, Alessandra, Di Bari, Eugenio, Mercuri, Cristina, Ponzanelli

المصدر: Neurological Sciences. 40:327-332

مصطلحات موضوعية: medicine.medical_specialty, Patient Dropouts, Neurology, Adolescent, Oligonucleotides, Dermatology, Intrathecal, Spinal Puncture, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, medicine, Humans, Family, 030212 general & internal medicine, Geography, Medical, Child, Injections, Spinal, Patient Care Team, Delivery of Health Care, Integrated, business.industry, Infant, General Medicine, Neuromuscular clinic, SMA, Spine, Integrated care, Psychiatry and Mental health, Neuroprotective Agents, Scoliosis, Child, Preschool, Physical therapy, Nusinersen, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23815d6655b601f7c9e8f79463b46e3fTest
https://doi.org/10.1007/s10072-018-3622-9Test

المؤلفون: Valeria A. Sansone

المصدر: Continuum (Minneapolis, Minn.). 25(6)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Muscle mri, Adolescent, business.industry, Outcome measures, Periodic paralysis, Neuromuscular Diseases, Muscle disorder, Gene mutation, medicine.disease, Myotonia, Paralyses, Familial Periodic, Food and drug administration, Child, Preschool, medicine, Humans, Dichlorphenamide, Female, Neurology (clinical), business, Child, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7655228bb402d9672eff8124abc6a60dTest
https://pubmed.ncbi.nlm.nih.gov/31794467Test

المؤلفون: Eyal Nof, Fernando E.S. Cruz, Victor Expósito-García, Luciana Sacilotto, Andrea Mazzanti, Jessica Sánchez-Quiñones, Elżbieta Katarzyna Biernacka, Esther Zorio, Deni Kukavica, Carmen Muñoz-Esparza, Julio Hernandez-Afonso, Elisa Tavazzani, Oscar Campuzano, Asaf Danon, Juan Jiménez-Jáimez, Martín Ortiz, Tekla Chargeishvili, Lorenzo Monserrat, Agnieszka Zienciuk-Krajka, Aristides Anastasakis, Carlo Napolitano, Eleonora Pagan, Maira Marino, Dmitri Guz, Amaya Garcia-Fernandez, Mirella Memmi, Beata Średniawa, Natália Olivetti, Valeria A. Sansone, Rumen Marinov, Georgia Sarquella-Brugada, Maite Izquierdo, Nicola Monteforte, Raffaella Bloise, María Eugenia Fuentes, Irena Andršová, Vincenzo Bagnardi, Silvia G. Priori, Alessandro Trancuccio, Anastasia Garoufi

المساهمون: Mazzanti, A, Guz, D, Trancuccio, A, Pagan, E, Kukavica, D, Chargeishvili, T, Olivetti, N, Biernacka, E, Sacilotto, L, Sarquella-Brugada, G, Campuzano, O, Nof, E, Anastasakis, A, Sansone, V, Jimenez-Jaimez, J, Cruz, F, Sanchez-Quinones, J, Hernandez-Afonso, J, Fuentes, M, Sredniawa, B, Garoufi, A, Andrsova, I, Izquierdo, M, Marinov, R, Danon, A, Exposito-Garcia, V, Garcia-Fernandez, A, Munoz-Esparza, C, Ortiz, M, Zienciuk-Krajka, A, Tavazzani, E, Monteforte, N, Bloise, R, Marino, M, Memmi, M, Napolitano, C, Zorio, E, Monserrat, L, Bagnardi, V, Priori, S

المصدر: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante

مصطلحات موضوعية: Male, Databases, Factual, Amiodarone, 030204 cardiovascular system & hematology, Sudden cardiac death, Electrocardiography, 0302 clinical medicine, Interquartile range, genetics, 030212 general & internal medicine, Child, sudden cardiac death, genetics, inherited arrhythmias, KCNJ2, life-threatening arrhythmic events, Andersen Syndrome, Muscle Weakness, Hazard ratio, Middle Aged, 3. Good health, Defibrillators, Implantable, Natural history, Child, Preschool, Risk stratification, Cohort, Female, Cardiology and Cardiovascular Medicine, Anti-Arrhythmia Agents, inherited arrhythmias, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Adrenergic beta-Antagonists, Risk Assessment, sudden cardiac death, Syncope, life- threatening arrhythmic events, 03 medical and health sciences, Young Adult, Andersen–Tawil syndrome, Internal medicine, medicine, Humans, Genetic Testing, KCNJ2, Potassium Channels, Inwardly Rectifying, KCNJ2, genetics, inherited arrhythmias, life-threatening arrhythmic events, sudden cardiac death, business.industry, Infant, Arrhythmias, Cardiac, medicine.disease, life-threatening arrhythmic events, Death, Sudden, Cardiac, Mutation, Tachycardia, Ventricular, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95db8f14bf6650a4244ac62d01a83ee2Test
https://pubmed.ncbi.nlm.nih.gov/32299590Test

المؤلفون: Valeria A. Sansone, Giacomo P. Comi, Francesca Magri, Sabrina Lucchiari, Nereo Bresolin, Stefania Corti, Gianna Ulzi

المصدر: Molecular Biology Reports. 41:2865-2874

مصطلحات موضوعية: Adult, Male, Adolescent, Myotonia Congenita, RNA Splicing, DNA Mutational Analysis, Neuromuscular transmission, In Vitro Techniques, Young Adult, Exon, Chloride Channels, Gene Order, Genetics, Humans, Child, Molecular Biology, Gene, Alleles, CLCN1, biology, Intron, General Medicine, Molecular biology, genomic DNA, Mutation, RNA splicing, biology.protein, Female, RNA Splice Sites, Minigene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a544ce2a4e77ab2bc7e8da6da5418aTest
https://doi.org/10.1007/s11033-014-3142-5Test