المؤلفون: Adele D'Amico, Lucia Morandi, Eugenio Mercuri, Lorena Travaglini, Francesco Danilo Tiziano, Maria Barbara Pasanisi, Ludovica Lospinoso Severini, Denise Locatelli, Paola Infante, Giovanni Baranello, Enrico Bertini, Agnese Novelli, Giorgia Coratti, Francesco Ria, Loredana Le Pera, Claudio Bruno, Isabella Moroni, Stefania Fiori, Cinzia Cagnoli, Marika Pane, Lucia Di Marcotullio, Davide D'Amico, Maria Carmela Pera, Krizia Pocino, Emanuela Abiusi, Federica Diano, Serena Spartano, Marina Mora

المصدر: eLife
eLife, Vol 10 (2021)

مصطلحات موضوعية: Male, Pathology, Mouse, SMN1, Settore MED/03 - GENETICA MEDICA, Pathogenesis, Medicine, genetics, Biology (General), Child, spinal muscular atrophy, General Neuroscience, Skeletal, General Medicine, Middle Aged, SMA, Muscular Atrophy, medicine.anatomical_structure, Child, Preschool, Muscle, Biomarker (medicine), biomarker, Female, Research Article, Human, Adult, medicine.medical_specialty, Spinal, Adolescent, QH301-705.5, Science, mRNA, General Biochemistry, Genetics and Molecular Biology, miRNA, skeletal muscle, Muscular Atrophy, Spinal, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Settore MED/04 - PATOLOGIA GENERALE, microRNA, genomics, Humans, Preschool, Muscle, Skeletal, General Immunology and Microbiology, business.industry, Skeletal muscle, Infant, Genetics and Genomics, Spinal muscular atrophy, Motor neuron, medicine.disease, MicroRNAs, business, Transcriptome, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9ca226749f62e0224adb7b98eaf941eTest
http://europepmc.org/articles/PMC8486378Test

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

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 548-557 (2021)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Adolescent, Outcome Assessment, Oligonucleotides, Neurological examination, Neurosciences. Biological psychiatry. Neuropsychiatry, 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, Outcome Assessment, Health Care, medicine, Humans, RC346-429, Child, Preschool, Research Articles, spinal muscular atrophy, medicine.diagnostic_test, business.industry, General Neuroscience, Child, Preschool, Follow-Up Studies, Infant, Survival of Motor Neuron 2 Protein, Repeated measures design, Spinal muscular atrophy, medicine.disease, SMA, Natural history, Health Care, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Long term data, Nusinersen, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, Research Article, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e14061f27a5a65a5c95aae2d46ace23Test
http://hdl.handle.net/11570/3220978Test

المؤلفون: Andrea Foppiani, Alberto Battezzati, Simone Ravella, Adele D'Amico, Alessandro Leone, Giovanni Baranello, Enrico Bertini, Simona Bertoli, E. Giaquinto, Riccardo Masson, Caterina Agosto, Ramona De Amicis, Giorgio Bedogni, Chiara Mastella, Claudio Bruno, Marina Pedemonte

مصطلحات موضوعية: 0301 basic medicine, Male, Coefficient of determination, Nutritional Status, 030209 endocrinology & metabolism, Spinal muscular atrophy type I, Spinal Muscular Atrophies of Childhood, Critical Care and Intensive Care Medicine, Disease cluster, Fat mass, 03 medical and health sciences, 0302 clinical medicine, Predictive equation, Models, Predictive Value of Tests, Reference Values, Statistics, Medicine, Humans, Fraction (mathematics), Longitudinal Studies, Child, Preschool, 030109 nutrition & dietetics, Nutrition and Dietetics, Models, Statistical, Anthropometry, business.industry, Infant, Statistical, SMA, Skinfold Thickness, Nutrition Assessment, Adipose Tissue, Child, Preschool, Nutritional status, Female, Body Composition, Observational study, Nusinersen, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5fe449875840ff6b2162546bf69c5bTest
http://hdl.handle.net/11567/1087917Test

المؤلفون: Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola, JS Italian Study Group, Patrizia Accorsi, Enrico Alfei, Elena Andreucci, Gianluigi Ardissino, Emanuela Avola, Rita Barone, Francesco Benedicenti, Stefania Bigoni, Loredana Boccone, Maria T. Bonati, Stefania Bova, Marilena Briguglio, Silvana Briuglia, Olga Calabrese, Gaetano Cantalupo, Gianluca Caridi, Monica Cazzagon, Maria E. Celle, Maria R. Cilio, Giangennaro Coppola, Adele D’Amico, Stefano D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno Dallapiccola, Raffaella Devescovi, Maria Cristina Digilio, Ilaria Donati, Maria A. Donati, Maria T. Dotti, Francesco Emma, Antonella Fabretto, Elisa Fazzi, Alessandra Ferlini, Alessandro Ferraris, Giovanni Battista Ferrero, Anna Ficcadenti, Simona Fiori, Rita Fischetto, Elena Freri, Livia Garavelli, Mattia Gentile, Lucio Giordano, Donatella Greco, Claudia Izzi, Vincenzo Leuzzi, Elisabetta Lucarelli, Silvia Majore, Maria M. Mancardi, Francesca Mari, Giuseppina Marra, Laura Mazzanti, Daniela Melis, Emanuele Micaglio, Marisol Mirabelli-Badenier, Isabella Moroni, Nardo Nardocci, Margherita Nosadini, Simona Orcesi, Giovanni Pagani, Chiara Pantaleoni, Francesco Papadia Papadia, Pasquale Parisi, Maria Grazia Patricelli, Cinzia Peruzzi, Alice Pessagno, Maria Piccione, Antonella Pini, Tiziana Pisano, Livia Pisciotta, Marzia Pollazzon, Francesca Rivieri, Alfonso Romano, Corrado Romano, Leonardo Salviati, Carmelo Damiano Salpietro, Margherita Santucci, Emanuela Scarano, Barbara Scelsa, Alberto Sensi, Marco Seri, Sabrina Signorini, Margherita Silengo, Alessandro Simonati, Fabio Sirchia, Luigina Spaccini, Franco Stanzial, Gilda Stringini, Eva Trevisson, Antonella Trivelli, Vera Uliana, Graziella Uziel, Gessica Vasco, Marina Vascotto, Giuseppina Vitiello, Federica Zibordi

المساهمون: Sara, Nuovo, Ilaria, Bacigalupo, Monia, Ginevrino, Roberta, Battini, Enrico, Bertini, Renato, Borgatti, Antonella, Casella, Alessia, Micalizzi, Marta, Nardella, Romina, Romaniello, Valentina, Serpieri, Ginevra, Zanni, Enza Maria, Valente, Nicola, Vanacore, Italian Study Group, J, Accorsi, Patrizia, Alfei, Enrico, Andreucci, Elena, Ardissino, Gianluigi, Avola, Emanuela, Barone, Rita, Benedicenti, Francesco, Bigoni, Stefania, Boccone, Loredana, Bonati, Maria T., Bova, Stefania, Briguglio, Marilena, Briuglia, Silvana, Calabrese, Olga, Cantalupo, Gaetano, Caridi, Gianluca, Cazzagon, Monica, Celle, Maria E., Cilio, Maria R., Coppola, Giangennaro, D’Amico, Adele, D’Arrigo, Stefano, De Brasi, Daniele, Fulvia de Leva, Maria, Del Giudice, Ennio, Carmela Di Giacomo, Marilena, Lucia Di Sabato, Maria, Dallapiccola, Bruno, Devescovi, Raffaella, Cristina Digilio, Maria, Donati, Ilaria, Donati, Maria A., Dotti, Maria T., Emma, Francesco, Fabretto, Antonella, Fazzi, Elisa, Ferlini, Alessandra, Ferraris, Alessandro, Battista Ferrero, Giovanni, Ficcadenti, Anna, Fiori, Simona, Fischetto, Rita, Freri, Elena, Garavelli, Livia, Gentile, Mattia, Giordano, Lucio, Greco, Donatella, Izzi, Claudia, Leuzzi, Vincenzo, Lucarelli, Elisabetta, Majore, Silvia, Mancardi, Maria M., Mari, Francesca, Marra, Giuseppina, Mazzanti, Laura, Melis, Daniela, Micaglio, Emanuele, Mirabelli-Badenier, Marisol, Moroni, Isabella, Nardocci, Nardo, Nosadini, Margherita, Orcesi, Simona, Pagani, Giovanni, Pantaleoni, Chiara, Papadia Papadia, Francesco, Parisi, Pasquale, Grazia Patricelli, Maria, Peruzzi, Cinzia, Pessagno, Alice, Piccione, Maria, Pini, Antonella, Pisano, Tiziana, Pisciotta, Livia, Pollazzon, Marzia, Rivieri, Francesca, Romano, Alfonso, Romano, Corrado, Salviati, Leonardo, Damiano Salpietro, Carmelo, Santucci, Margherita, Scarano, Emanuela, Scelsa, Barbara, Sensi, Alberto, Seri, Marco, Signorini, Sabrina

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Adult, Age Factors, Age of Onset, Cerebellum, Child, Preschool, Databases, Genetic, Eye Abnormalities, Female, High-Throughput Nucleotide Sequencing, Humans, Infant, Italy, Kidney Diseases, Cystic, Male, Middle Aged, Prevalence, Retina, Sex Factors, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31969461; info:eu-repo/semantics/altIdentifier/wos/WOS:000530853800012; volume:94; issue:8; firstpage:797; lastpage:801; numberofpages:5; journal:NEUROLOGY; http://hdl.handle.net/11562/1029996Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081110222

الإتاحة: https://doi.org/10.1212/WNL.0000000000008996Test
http://hdl.handle.net/11562/1029996Test

المؤلفون: Lorena Travaglini, Adele D'Amico, Gessica Vasco, Andrea Ciolfi, Sara Loddo, Marco Tartaglia, Ginevra Zanni, Simone Pizzi, Francesco Nicita, Sabina Barresi, Fabrizia Stregapede, Enrico Bertini, Chiara Aiello, Alessandro Bruselles, Viola Alesi, Michela Catteruccia

المصدر: neurogenetics. 19:111-121

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Single-nucleotide polymorphism, Biology, Gene mutation, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Molecular genetics, Genetics, medicine, Humans, Genetic Testing, Multiplex ligation-dependent probe amplification, Age of Onset, Child, Genetic Association Studies, Genetics (clinical), Genetic association, KIF1A, Massive parallel sequencing, Spastic Paraplegia, Hereditary, Infant, Newborn, Brain, High-Throughput Nucleotide Sequencing, Infant, 030104 developmental biology, Child, Preschool, Mutation, Female, 030217 neurology & neurosurgery, SNP array

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::192f12d93a2330338f5be5f4313bc9b6Test
https://doi.org/10.1007/s10048-018-0545-9Test

المؤلفون: Adele D’Amico, Fabiana Fattori, Chiara Fiorillo, Maria Giovanna Paglietti, Maria B. Chiarini Testa, Margherita Verardo, Michela Catteruccia, Claudio Bruno, Enrico Bertini

المساهمون: D’Amico, Adele, Fattori, Fabiana, Fiorillo, Chiara, Giovanna Paglietti, Maria, Chiarini Testa, Maria B., Verardo, Margherita, Catteruccia, Michela, Bruno, Claudio, Bertini, Enrico

مصطلحات موضوعية: Nemaline myopathy, Pectus carinatum, Rod bodie, TNNT1, Tropomyosin I, Female, Homozygote, Human, Infant, Muscle, Skeletal, Mutation, Myopathies, Nemaline, Pedigree, Phenotype, Sibling, Troponin I

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31604653; info:eu-repo/semantics/altIdentifier/wos/WOS:000496871200005; volume:29; firstpage:766; lastpage:770; numberofpages:5; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11567/1027235Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85073033619

الإتاحة: https://doi.org/10.1016/j.nmd.2019.09.005Test
http://hdl.handle.net/11567/1027235Test

المؤلفون: Fiorella Piemonte, Stefania Petrini, Laura Pelosi, Sara Petrillo, Adele D'Amico, Michela Catteruccia, Laura Forcina, Antonio Musarò, Margherita Verardo, Enrico Bertini, Lorena Travaglini

المصدر: Human Molecular Genetics. 26:2781-2790

مصطلحات موضوعية: Male, 0301 basic medicine, chronic inflammation, antioxidants, oxidative stress, duchenne's muscular dystrophy, biopsy, glutathione disulfide, oxidation-reduction, interleukin-6, pathology, Duchenne muscular dystrophy, medicine.disease_cause, Antioxidants, Dystrophin, Pathogenesis, Mice, 0302 clinical medicine, Muscular dystrophy, Child, Genetics (clinical), Genetic disorder, General Medicine, Glutathione, Child, Preschool, Chronic inflammatory response, Female, medicine.symptom, Oxidation-Reduction, Signal Transduction, medicine.medical_specialty, NF-E2-Related Factor 2, Mice, Transgenic, Inflammation, Biology, 03 medical and health sciences, Internal medicine, Genetics, medicine, Animals, Humans, Muscle, Skeletal, Molecular Biology, Infant, Newborn, Infant, medicine.disease, Muscular Dystrophy, Duchenne, Heme oxygenase, Disease Models, Animal, Oxidative Stress, 030104 developmental biology, Endocrinology, 030217 neurology & neurosurgery, Oxidative stress

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11e8bbdb09aac47763546f3a56942e9Test
https://doi.org/10.1093/hmg/ddx173Test

المؤلفون: Riccardo Masson, Ramona De Amicis, Alberto Battezzati, Adele D'Amico, Alessandro Leone, Enrico Bertini, Marina Pedemonte, Chiara Mastella, Simone Ravella, Giorgio Bedogni, Caterina Agosto, Andrea Foppiani, Giovanni Baranello, E. Giaquinto, M. Bassano, Claudio Bruno, Simona Bertoli

المصدر: The American journal of clinical nutrition. 111(5)

مصطلحات موضوعية: Artificial ventilation, Male, Percentile, medicine.medical_specialty, medicine.medical_treatment, Oligonucleotides, Medicine (miscellaneous), Nutritional Status, Spinal Muscular Atrophies of Childhood, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Linear regression, Medicine, Humans, Resting energy expenditure, 030212 general & internal medicine, Longitudinal Studies, Child, Mechanical ventilation, Nutrition and Dietetics, Ventilators, Mechanical, business.industry, Nutritional Requirements, Infant, Calorimetry, Indirect, Child, Preschool, Basal metabolic rate, Breathing, Cardiology, Nusinersen, Female, Basal Metabolism, business, Energy Metabolism, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59df84c65e7c8e94d289ea48d13dea2Test
https://pubmed.ncbi.nlm.nih.gov/32145012Test

المؤلفون: A. Hernandez, Andrea Gangfuß, V. Chê, Adele D'Amico, Rémi Bellance, Laurent Servais, Capucine de Lattre, Basil T. Darras, E. Gargaun, James J. Dowling, Teresa Gidaro, C. Lilien, Ulrike Schara, A. Daron, Ana Buj-Bello, H. Landy, Jean-Marie Cuisset, Carole Vuillerot, Jean-Yves Hogrel, S. Fontaine, Jean-Michel Arnal, Valérie Biancalana, Michèle Mayer, M. Annoussamy

المساهمون: Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Advanced BC.org, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Neuromuscular Physiology and Evaluation Laboratory, Service of Clinical Trials and Databases, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), École Pratique des Hautes Études (EPHE), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Neurology
Neurology, American Academy of Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩
Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Vital capacity, medicine.medical_specialty, Neuromuscular disease, Adolescent, [SDV]Life Sciences [q-bio], Population, Medizin, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Longitudinal Studies, Prospective Studies, education, Prospective cohort study, Child, education.field_of_study, business.industry, Exhalation, Infant, Middle Aged, medicine.disease, X-linked myotubular myopathy, 3. Good health, 030104 developmental biology, Phenotype, Child, Preschool, Breathing, Disease Progression, Neurology (clinical), business, 030217 neurology & neurosurgery, Natural history study, Follow-Up Studies, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b38c1995ded35a436868282a9704c7Test
https://hal.archives-ouvertes.fr/hal-02880782Test