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المؤلفون: Mercuri, Maria Carmela Pera, Giorgia Coratti, Jacopo Casiraghi, Chiara Bravetti, Alessandro Fedeli, Milija Strika, Emilio Albamonte, Laura Antonaci, Diletta Rossi, Marika Pane, Valeria Ada Sansone, Eugenio
المصدر: Journal of Clinical Medicine; Volume 12; Issue 13; Pages: 4183
مصطلحات موضوعية: spinal muscular atrophy, quality of life, caregiver, clinical trials
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::7646e18db6d98037450c0d2ab482f978Test
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المؤلفون: Edoardo Nicolò Aiello, Lucia Catherine Greco, Antonino La Tona, Federica Solca, Silvia Torre, Laura Carelli, Debora Pain, Alice Radici, Andrea Lizio, Jacopo Casiraghi, Federica Cerri, Agostino Brugnera, Angelo Compare, Susan Woolley, Jennifer Murphy, Lucio Tremolizzo, Ildebrando Appollonio, Federico Verde, Vincenzo Silani, Nicola Ticozzi, Christian Lunetta, Valeria Ada Sansone, Barbara Poletti
المساهمون: Aiello, E, Catherine Greco, L, La Tona, A, Solca, F, Torre, S, Carelli, L, Pain, D, Radici, A, Lizio, A, Casiraghi, J, Cerri, F, Brugnera, A, Compare, A, Woolley, S, Murphy, J, Tremolizzo, L, Appollonio, I, Verde, F, Silani, V, Ticozzi, N, Lunetta, C, Ada Sansone, V, Poletti, B
مصطلحات موضوعية: ALS Cognitive Behavioral Screen, Amyotrophic lateral sclerosis, Clinimetrics, Cognitive screening, Frontotemporal degeneration, Neuropsychology, Dermatology, General Medicine, Psychiatry and Mental health, Clinimetric, Settore M-PSI/02 - Psicobiologia e Psicologia Fisiologica, Neurology (clinical), Amyotrophic lateral sclerosi
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f3b9b6d076ea12baafda83df38a5e1Test
https://hdl.handle.net/10281/400231Test -
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المؤلفون: Sonia Messina, Maria Sframeli, Jacqueline Montes, Simone Morando, John W. Day, Valeria A. Sansone, Matthew Civitello, Laura Antonaci, William B. Martens, Allan M. Glanzman, Enrico Bertini, Annemarie Rohwer, Marika Pane, Eugenio Mercuri, Adele D'Amico, Irene Mizzoni, Claudio Bruno, Katia Patanella, Roberto De Sanctis, Francesco Muntoni, Darryl C. De Vivo, Anna Lia Frongia, Francesca Bovis, Tina Duong, Maria Carmela Pera, Amy Pasternak, Giorgia Coratti, Francesca Salmin, Richard S. Finkel, Mariacristina Scoto, Basil T. Darras, Sally Dunaway Young
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, Outcome Assessment, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, 0302 clinical medicine, Outcome Assessment, Health Care, Medicine, Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Longitudinal Studies, Middle Aged, Young Adult, Registries, Research Articles, media_common, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, General Neuroscience, nusinersen, SMA, medicine.anatomical_structure, Cohort, Upper limb, Nusinersen, RC321-571, Research Article, medicine.medical_specialty, media_common.quotation_subject, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Preschool, RC346-429, Selection bias, Adult patients, business.industry, Spinal muscular atrophy, medicine.disease, Health Care, 030104 developmental biology, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce733bf025ec593e1d29dfd1172ba332Test
http://europepmc.org/articles/PMC8351459Test -
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المؤلفون: Carola R. Ferrari Aggradi, Elisa Falcier, Andrea Lizio, Alice Pirola, Jacopo Casiraghi, Alice Zanolini, Elena Carraro, Luca Mauro, Fabrizio Rao, Elisabetta Roma, Antonino Iannello, Elisa De Mattia, Andrea Barp, Sara Lupone, Valentina Gatti, Cristina Italiano, Valeria A. Sansone
المصدر: Canadian Respiratory Journal.
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Adult, Hypercapnia, Noninvasive Ventilation, Article Subject, Respiration, Humans, Myotonic Dystrophy, Middle Aged, Respiratory Insufficiency
وصف الملف: text/xhtml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a0e718b69d959d3797915768498704Test
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المؤلفون: Nicoletta Guanziroli, Philippe Fayemendy, Philippe Couratier, Nilo Riva, Ettore Corradi, Valeria A. Sansone, Philippe Corcia, Christian Lunetta, Andrea Lizio, Letizia Leocani, Massimo Filippi, Marina Cattaneo, Pierre Jésus
المساهمون: Cattaneo, M., Jesus, P., Lizio, A., Fayemendy, P., Guanziroli, N., Corradi, E., Sansone, V., Leocani, L., Filippi, M., Riva, N., Corcia, P., Couratier, P., Lunetta, C., ASST Grande Ospedale Metropolitano Niguarda, Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hépato-Gastro-Entérologie et Nutrition [CHU Limoges], CHU Limoges, San Raffaele Hospital, Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [CHU Limoges], CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-326184. ⟨10.1136/jnnp-2021-326184⟩مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, 030309 nutrition & dietetics, medicine.medical_treatment, 03 medical and health sciences, 0302 clinical medicine, Weight loss, Internal medicine, Weight Loss, medicine, Humans, Amyotrophic lateral sclerosis, Aged, Retrospective Studies, 0303 health sciences, business.industry, Amyotrophic Lateral Sclerosis, Retrospective cohort study, Calorimetry, Indirect, Middle Aged, medicine.disease, Prognosis, Gastrostomy, 3. Good health, Psychiatry and Mental health, Malnutrition, Cohort, Breathing, Hypermetabolism, Body Composition, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Surgery, Female, Neurology (clinical), medicine.symptom, business, Energy Metabolism, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c076f52ad274d2cf85962555cb43c3fTest
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المؤلفون: Silvia Zia, Valeria A. Sansone, Barbara Roda, Pierluigi Reschiglian, Alessandra Ferlini, Wenyan Li, Francesca Gualandi, Andrea Barp, Andrea Grilli, Zhiyuan Lu, Silvio Bicciato, Federica Ricci, M. Fabris, Madhuri Hegde, Luca Bello, Tiziana Mongini, Paola Rimessi, Reem El Dani, Rachele Rossi, Maria Sofia Falzarano, Elena Pegoraro, Mingyan Fang, Rita Selvatici
المصدر: HGG Advances, Vol 3, Iss 1, Pp 100054-(2022)
Human Genetics and Genomics Advancesمصطلحات موضوعية: Antisense therapy, musculoskeletal diseases, Mutation, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, government.form_of_government, Socio-culturale, RNA-Seq, Computational biology, Biology, QH426-470, medicine.disease_cause, medicine.disease, Article, Gene expression profiling, Transcription (biology), RNA splicing, medicine, government, biology.protein, Genetics, Molecular Medicine, Dystrophin, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e477b56a8959acf282748c98930674aTest
http://www.sciencedirect.com/science/article/pii/S266624772100035XTest -
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المؤلفون: Christian Lunetta, Massimo Filippi, Jacopo Casiraghi, Barbara Poletti, Lucia Greco, Vincenzo Silani, Federica Solca, Nicola Ticozzi, Silvia Torre, Nilo Riva, Valeria A. Sansone, Lucio Tremolizzo, Andrea Lizio
المساهمون: Greco, L. C., Lizio, A., Casiraghi, J., Sansone, V. A., Tremolizzo, L., Riva, N., Solca, F., Torre, S., Ticozzi, N., Filippi, M., Silani, V., Poletti, B., Lunetta, C., Greco, L, Lizio, A, Casiraghi, J, Sansone, V, Tremolizzo, L, Riva, N, Solca, F, Torre, S, Ticozzi, N, Filippi, M, Silani, V, Poletti, B, Lunetta, C
مصطلحات موضوعية: Adult, medicine.medical_specialty, Neurology, Screening test, Neuropsychological Tests, Cohen's kappa, Cognition, Strong criteria, Medicine, Humans, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosi, Neuroradiology, MED/26 - NEUROLOGIA, business.industry, Amyotrophic Lateral Sclerosis, ECAS, Middle Aged, medicine.disease, Confidence interval, Phenotype, Cohort, ALS-CBS, Neurology (clinical), business, Cognition Disorders, Clinical psychology
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a9a86cb6467cd0e24c9b6910b6448cTest
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المؤلفون: Valeria A. Sansone, Matthew Civitello, Mariacristina Scoto, Adele D'Amico, Emilio Albamonte, Irene Mizzoni, Anna Lia Frongia, Maria Carmela Pera, Basil T. Darras, John W. Day, Amy Pasternak, Francesca Bovis, Sally Dunaway Young, Giorgia Coratti, Laura Antonaci, Eugenio Mercuri, Maria Sframeli, Tina Duong, Claudio Bruno, Annemarie Rohwer, Jacqueline Montes, Richard S. Finkel, Marika Pane, Darryl C. De Vivo, Enrico Bertini, Giovanni Baranello, Evelin Milev, Roberto De Sanctis, Francesco Muntoni, Sonia Messina, Allan M. Glanzman, Elena S. Mazzone, Massimo Russo
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Spinal, Natural history, Spinal Muscular Atrophies of Childhood, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Neuromuscular disorders, Revised upper limb module, Spinal muscular atrophy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Child, Preschool, Disease Progression, Female, Longitudinal Studies, Middle Aged, Preschool, Genetics (clinical), business.industry, SMA, medicine.disease, Relative stability, Large cohort, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Upper limb, Neurology (clinical), business, Real world data
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fcTest
http://hdl.handle.net/10807/197786Test -
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المؤلفون: Christian Lunetta, Andrea Lizio, Corrado Cabona, Francesca Gerardi, Valeria Ada Sansone, Massimo Corbo, Carlo Scialò, Emanuele Angelucci, Francesca Gualandi, Paola Marenco, Giovanni Grillo, Roberto Cairoli, Clara Cesana, Riccardo Saccardi, Mario Giovanni Melazzini, Gianluigi Mancardi, Claudia Caponnetto
المساهمون: Lunetta, L, Lizio, A, Cabona, C, Gerardi, F, Sansone, V, Corbo, M, Scialo, C, Angelucci, E, Gualandi, F, Marenco, P, Grillo, G, Cairoli, R, Cesana, C, Saccardi, R, Melazzini, M, Mancardi, G, Caponnetto, C
مصطلحات موضوعية: Male, Disease progression, Transplantation Conditioning, Neurology, Amyotrophic Lateral Sclerosis, T-reg, Quality of Life, Humans, Hematopoietic stem cell transplantation, Neurology (clinical), Transplantation, Autologous, Cyclophosphamide, Amyotrophic lateral sclerosi
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b413c657f6e4b664154c43a3b03ee284Test
https://hdl.handle.net/10281/403678Test -
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المؤلفون: Nancy L. Kuntz, Julie A. Parsons, Russell J. Butterfield, Francy Shu, Sandra P. Reyna, Janbernd Kirschner, Sarah Gheuens, Marco Petrillo, Darryl C. De Vivo, Kathryn J. Swoboda, Christopher Stebbins, Wildon Farwell, Wuh-Liang Hwu, Haluk Topaloglu, Enrico Bertini, Kristina Johnson, Richard Foster, Douglas A. Kerr, Valeria A. Sansone, Monique M. Ryan, Tawfeg Ben-Omran, Stephanie Fradette, Ishir Bhan, Thomas O. Crawford, Richard S. Finkel, Alfred Sandrock, John F. Staropoli, Yuh-Jyh Jong, Gabriel Braley
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: 0301 basic medicine, Newborn screening, Male, Weakness, Pediatrics, medicine.medical_specialty, Time Factors, Oligonucleotides, Presymptomatic, Neurofilament, Motor Activity, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Nusinersen, Medicine, Humans, Adverse effect, Genetics (clinical), business.industry, Infant, Newborn, Infant, Spinal muscular atrophy, SMA, medicine.disease, Muscle atrophy, Clinical trial, Survival of Motor Neuron 2 Protein, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009a698a6201cae9a42c7310edf09bf6Test
http://europepmc.org/articles/PMC7127286Test