نتائج البحث - "Valeria A Sansone"

1

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy

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

2

The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure

مصطلحات موضوعية: 0301 basic medicine, Male, Severity of Illness Index, Internal validity, Cohort Studies, 0302 clinical medicine, Cost of Illness, Surveys and Questionnaires, Medicine, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Middle Aged, SMA, Muscular Atrophy, medicine.anatomical_structure, Test-retest reliability, Neurology, Italy, Cohort, Upper limb, Spinal muscular atrophy health index, Patient-reported outcome, Female, Adult, medicine.medical_specialty, Adolescent, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, Patient-reported outcomes, Spinal muscular atrophy, Humans, Quality of Life, Reproducibility of Results, Translations, Patient Reported Outcome Measures, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Cronbach's alpha, Disease burden, business.industry, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7d219115205388497280afb4c47d6aTest
http://hdl.handle.net/10807/182752Test

3

Development of an academic disease registry for spinal muscular atrophy

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

4

Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort

المساهمون: Trojsi, Francesca, Siciliano, Mattia, Femiano, Cinzia, Santangelo, Gabriella, Lunetta, Christian, Calvo, Andrea, Moglia, Cristina, Marinou, Kalliopi, Ticozzi, Nicola, Drago Ferrante, Gianluca, Scialã², Carlo, Sorarã¹, Gianni, Conte, Amelia, Falzone, Yuri M., Tortelli, Rosanna, Russo, Massimo, Sansone, Valeria Ada, Chiã², Adriano, Mora, Gabriele, Poletti, Barbara, Volanti, Paolo, Caponnetto, Claudia, Querin, Giorgia, Sabatelli, Mario, Riva, Nilo, Logroscino, Giancarlo, Messina, Sonia, Fasano, Antonio, Monsurrã², Maria Rosaria, Tedeschi, Gioacchino, Mandrioli, Jessica

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76dafa9ba5f05ca8717e3aee22b3ca0dTest
http://hdl.handle.net/11570/3134774Test

5

Factors predicting survival in ALS: a multicenter Italian study

المساهمون: Calvo, Andrea, Moglia, Cristina, Lunetta, Christian, Marinou, Kalliopi, Ticozzi, Nicola, Ferrante, Gianluca Drago, Scialo, Carlo, Sorarù, Gianni, Trojsi, Francesca, Conte, Amelia, Falzone, Yuri M., Tortelli, Rosanna, Russo, Massimo, Chiò, Adriano, Sansone, Valeria Ada, Mora, Gabriele, Silani, Vincenzo, Volanti, Paolo, Caponnetto, Claudia, Querin, Giorgia, Monsurro', Maria Rosaria, Sabatelli, Mario, Riva, Nilo, Logroscino, Giancarlo, Messina, Sonia, Fini, Nicola, Mandrioli, Jessica

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Delayed Diagnosis, Multivariate analysis, ALS, Population-based registries, Prognostic factors, Referral centers, Survival, Age of Onset, Aged, Amyotrophic Lateral Sclerosis, Body Mass Index, Female, Follow-Up Studies, Humans, Italy, Kaplan-Meier Estimate, Middle Aged, Phenotype, Prognosis, Retrospective Studies, Tertiary Care Centers, 0302 clinical medicine, Amyotrophic lateral sclerosis, Prognostic factor, Univariate analysis, education.field_of_study, Settore MED/26 - NEUROLOGIA, Neurology, medicine.medical_specialty, Neurology (clinical), Population, Population-based registrie, 03 medical and health sciences, medicine, Dementia, Referral center, education, business.industry, Clinical study design, Retrospective cohort study, medicine.disease, 030104 developmental biology, Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d522742d9ad6ff80cbe9606259d6744aTest
https://hdl.handle.net/11380/1237978Test

6

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

المؤلفون: Emilia Bobeica, Cristina Ponzanelli, Paolo Stoia, Emilio Albamonte, Valeria A. Sansone, Fabrizio Rao, Claudio Bruno, Cristina Faraone, Danilo Tiziano, Valeria Cozzi, Marika Pane, Elisa De Mattia, Anna Maria Bonetti, Maria Sframeli, Marcello Villanova, Orazio Genovese, Anna Mandelli, Chiara Mastella, Marco Piastra, Sara Luppone, Francesca Penno, Adele D'Amico, Sonia Messina, Anna Ambrosini, Alessandro Pedicelli, Antonio Versaci, Stefania La Foresta, Luca Binetti, Alessia D'Agostino, Nicola Forcina, Giulia Colia, Elisa Falcier, Maria Macrì, Maurizio Heinen, Luca Mancini, Jacopo Casiraghi, Maria Beatrice Chiarini, Carlo Gandolfo, Concetta Palermo, Marta Ferretti, Maria Letizia Solinas, Giuseppe Vita, Imma Rulli, Giovanni Montobbio, Anita Pallara, Alice Pirola, Daniela Leone, Michela Catteruccia, Grazia Zappa, Renato Cutrera, Paola Tacchetti, Adelina Carlesi, Eloisa Gitto, Daniela Lauro, Alberto Fontana, Valentina Iurilli, Emma Mizzotti, Beatrice Travaglia, Enrico Bertini, Eugenio Mercuri, Fausto Fedeli, Marina Pedemonte, Roberto De Sanctis, Alberto Garaventa, Simona Spinoglio

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8e96590fdb983f12a8b61d41c5e4edTest
http://hdl.handle.net/10807/118563Test

7

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

المساهمون: Mercuri, Eugenio, Baranello, G., Battini, R., Berardinelli, A., Bertini, E., Bruno, C., Comi, G. P., D'Amico, A., D'Angelo, G., Gorni, K., Messina, S., Mongini, T., Pane, M., Pegoraro, E., Pini, A., Politano, Luisa, Previtali, S., Ricci, F., Sansone, V., Vita, G. L.

مصطلحات موضوعية: Male, Registrie, Pediatrics, medicine.medical_specialty, Neurology, Standard of care, Duchenne muscular dystrophy, Tertiary Care Center, MEDLINE, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Tertiary care, Cohort Studies, Tertiary Care Centers, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Muscular Dystrophy, Registries, Muscular dystrophy, Preschool, Child, Child, Preschool, Italy, Muscular Dystrophy, Duchenne, Steroids, Standard of Care, Steroid, business.industry, Perinatology and Child Health, Duchenne, medicine.disease, Settore MED/26 - NEUROLOGIA, Multicenter study, Physical therapy, Cohort Studie, business, 030217 neurology & neurosurgery, Human, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093f218acd8cd0b4f0137109198ce4ceTest
http://hdl.handle.net/11570/3094538Test

8

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

المؤلفون: Valeria A. Sansone, Eleonora Corti, Marzia Lecchi, Francesca Magri, Domenica Saccomanno, Stefania Corti, Monika Raimondi, Giacomo P. Comi, Enzo Wanke, Giovanni Meola, Grazia D'Angelo, Elisa Redaelli, Sabrina Lucchiari, Anna Modoni, Gianna Ulzi, Serena Pagliarani, Nereo Bresolin

المساهمون: Ulzi, G, Lecchi, M, Sansone, V, Redaelli, E, Corti, E, Saccomanno, D, Pagliarani, S, Corti, S, Magri, F, Raimondi, M, D'Angelo, G, Modoni, A, Bresolin, N, Meola, G, Wanke, E, Comi, G, Lucchiari, S

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694d5e2eb0c92a0d15a0920cb68d6a8bTest
http://hdl.handle.net/10281/32847Test

9

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases

المساهمون: Sansone, Va, Panzeri, M, Montanari, M, Apolone, G, Gandossini, S, Rose, Mr, Politano, Luisa, Solimene, C, Siciliano, G, Volpi, L, Angelini, C, Palmieri, A, Toscano, A, Musumeci, O, Mongini, T, Vercelli, L, Massa, R, Panico, Mb, Grandi, M, Meola, G.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6169ae244e59b2035450aec64f9fc310Test
http://hdl.handle.net/11577/2426223Test

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