نتائج البحث - "Adele d'Amico"

المساهمون: Institut Català de la Salut, [Bosco L] Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy. Department of Science, University 'Roma Tre', Rome, Italy. [Leone D] Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Roma, Italy. [Costa Comellas L] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Monforte M] UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. [Pane M, Mercuri E] Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Roma, Italy. Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Rome, Italy, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, enfermedades musculoesqueléticas::enfermedades musculares::miopatías estructurales congénitas [ENFERMEDADES], Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], General Medicine, Musculoskeletal Diseases::Muscular Diseases::Myopathies, Structural, Congenital [DISEASES], Catalysis, Computer Science Applications, Inorganic Chemistry, Anomalies cromosòmiques, Músculs - Malalties - Aspectes genètics, Other subheadings::Other subheadings::/genetics [Other subheadings], Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da1b8331fd30da6eb0a5138914868503Test
https://hdl.handle.net/11351/8474Test

5

Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

المؤلفون: Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Male, Digestive System Diseases, Infant, Newborn, Correction, Comorbidity, General Medicine, Medicine, Humans, Pharmacology (medical), Prospective Studies, Muscle, Skeletal, Genetics (clinical), Myopathies, Structural, Congenital, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434b6d40b39ae0573276c90efa650fd7Test
https://doi.org/10.1186/s13023-021-02171-yTest

6

SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples

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

7

Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies

المؤلفون: Carlo Minetti, Lizzia Raffaghello, Chiara Panicucci, Chiara Fiorillo, Stefano C. Previtali, Serena Baratto, Claudio Bruno, Monica Traverso, Elena Pegoraro, Adele D'Amico, Paola Tonin, Giorgio Tasca

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cafe8d50baeb6840531acccad7f94bafTest
http://hdl.handle.net/11577/3400663Test

8

Spinal muscular atrophy: state of the art and new therapeutic strategies

المؤلفون: Maria Sframeli, Eugenio Mercuri, Claudio Bruno, Sonia Messina, Giacomo P. Comi, Adele D'Amico, Lorenzo Maggi

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 43(Suppl 2)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ada3c8aeec6d6202af699491e88e4bTest
https://pubmed.ncbi.nlm.nih.gov/33871750Test

9

Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies

المؤلفون: Erica Mencarelli, Adele D'Amico, Fabrizio Drago, Rachele Adorisio, Massimo Stefano Silvetti, Marianna Cicenia, Maria Grandinetti, Liliana Amato, Antonio Amodeo, Nicoletta Cantarutti, Camilla Calvieri

المصدر: Journal of Clinical Medicine, Vol 9, Iss 3186, p 3186 (2020)
Journal of Clinical Medicine

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, Cardiomyopathy, heart failure, lcsh:Medicine, Review, 030204 cardiovascular system & hematology, Pharmacological treatment, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, cardiovascular diseases, Therapeutic strategy, duchenne muscular distrophy, biology, business.industry, lcsh:R, Dilated cardiomyopathy, Angiotensin-converting enzyme, General Medicine, medicine.disease, dilated cardiomyopathy, medicine.anatomical_structure, Ventricle, Heart failure, biology.protein, Cardiology, cardiovascular system, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097ff7c7943c99036015a3e5007bfb48Test
https://www.mdpi.com/2077-0383/9/10/3186Test

10

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

المساهمون: Cappelletti, C., Tramacere, I., Cavalcante, P., Schena, E., Politano, L., Carboni, N., Gambineri, A., D'Amico, A., Ruggiero, L., Ricci, G., Siciliano, G., Boriani, G., Mongini, T. E., Vercelli, L., Biagini, E., Ziacchi, M., D'Apice, M. R., Lattanzi, G., Mantegazza, R., Maggi, L., Bernasconi, P., Cristina Cappelletti , Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano , Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi , Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi, Cappelletti, Cristina, Tramacere, Irene, Cavalcante, Paola, Schena, Elisa, Politano, Luisa, Carboni, Nicola, Gambineri, Alessandra, D’Amico, Adele, Ruggiero, Lucia, Ricci, Giulia, Siciliano, Gabriele, Boriani, Giuseppe, Mongini, Tiziana Enrica, Vercelli, Liliana, Biagini, Elena, Ziacchi, Matteo, D’Apice, Maria Rosaria, Lattanzi, Giovanna, Mantegazza, Renato, Maggi, Lorenzo, Bernasconi, Pia

المصدر: Cells
Volume 9
Issue 6
Cells, Vol 9, Iss 1532, p 1532 (2020)

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79521cc115bef8027415bb1c15e77698Test
https://doi.org/10.3390/cells9061532Test

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