نتائج البحث - "Adele d'Amico"

المساهمون: Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Pôle Femme-Mère-Enfant [CHU La Réunion, Saint-Pierre, La Réunion], Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Tasca, Giorgio [0000-0003-0849-9144], Kollipara, Laxmikanth [0000-0002-2673-0488], Zahedi, René P [0000-0002-4960-5460], Ricci, Francesco [0000-0002-7168-1099], Boland, Anne [0000-0001-8789-5676], Swan, Laura [0000-0002-6312-6263], Bonne, Gisèle [0000-0002-2516-3258], Apollo - University of Cambridge Repository, Hathazi, Denisa, Cox, Dan, D'Amico, Adele, Tasca, Giorgio, Charlton, Richard, Carlier, Robert-Yve, Baumann, Jennifer, Kollipara, Laxmikanth, Zahedi, René P, Feldmann, Ingo, Deleuze, Jean-Francoi, Torella, Annalaura, Cohn, Ronald, Robinson, Emily, Ricci, Francesco, Jungbluth, Heinz, Fattori, Fabiana, Boland, Anne, O'Connor, Emily, Horvath, Rita, Barresi, Rita, Lochmüller, Hann, Urtizberea, Andoni, Jacquemont, Marie-Line, Nelson, Isabelle, Swan, Laura, Bonne, Gisèle, Roos, Andreas

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
Brain-A Journal of Neurology, 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
BRAIN
Brain

مصطلحات موضوعية: 0301 basic medicine, Male, Proteomics, Medizin, Disease, medicine.disease_cause, 0302 clinical medicine, Guanine Nucleotide Exchange Factors, Phosphoglycerate dehydrogenase, Child, Zebrafish, PHGDH, Spinocerebellar Degenerations, Genetics, Mutation, Inositol Polyphosphate 5-Phosphatases, Middle Aged, Phenotype, L-serine, 3. Good health, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, SIL1, Human, Adult, Ataxia, Adolescent, BiP, Spinocerebellar Degeneration, Biology, 03 medical and health sciences, Cataracts, medicine, Animals, Humans, Myopathy, Muscle, Skeletal, Phosphoglycerate Dehydrogenase, Animal, Proteomic, Original Articles, Guanine Nucleotide Exchange Factor, medicine.disease, biology.organism_classification, 030104 developmental biology, Neurology (clinical), INPP5K, Inositol Polyphosphate 5-Phosphatase, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce027d8d9bbbf23fbe33072ea746d16cTest
https://www.ncbi.nlm.nih.gov/pubmed/33792664Test

5

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

المؤلفون: Adele D’Amico, Fabiana Fattori, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia, Marika Pane, Eugenio Mercuri, Marco Tartaglia, Enrico Bertini

المصدر: Frontiers in Genetics, Vol 11 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a12681e5522f4afea4b3cb98e0688f9Test
https://doi.org/10.3389/fgene.2020.565868Test

6

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

المؤلفون: Anna Modoni, Adele D'Amico, Guido Primiano, Fiorentino Capozzoli, Jean-François Desaphy, Mauro Lo Monaco

المصدر: Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59d585fb9703bf6e78dafbe6ad8b48e7Test
https://www.frontiersin.org/article/10.3389/fneur.2020.00300/fullTest

7

Pharmacological tuning of microRNAs in FAP-derived Extracellular Vesicles by HDAC inhibitors promotes regeneration and reduces fibrosis in dystrophic muscles

المؤلفون: Saccone, Daniela F. Angelini, Tucciarone L, Sara Cazzaniga, Martina Sandoná, Bardi, Buffa, Enrico Bertini, Pier Lorenzo Puri, Antonella Bongiovanni, Silvia Consalvi, Marina Bouché, Paolo Bettica, Manuel Scimeca, Adele D'Amico

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Chemistry, Duchenne muscular dystrophy, Regeneration (biology), Inflammation, medicine.disease, Cell biology, Transplantation, In vivo, Fibrosis, medicine, medicine.symptom, Ex vivo, Progenitor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61baa7b5f22f1d577b3fa559bf7275e6Test
https://doi.org/10.1101/2020.02.15.947325Test

8

HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle-resident mesenchymal cells

المؤلفون: Marina Bouché, Tucciarone L, Martina Sandoná, Adele D'Amico, Manuel Scimeca, Enrico Bertini, Pier Lorenzo Puri, Valentina Saccone, Sara Cazzaniga, Antonella Bongiovanni, Valentina Buffa, Paolo Bettica, Marco De Bardi, Silvia Consalvi, Daniela F. Angelini

المصدر: EMBO reports
21 (2020). doi:10.15252/embr.202050863
info:cnr-pdr/source/autori:Sandonà Martina; Consalvi Silvia; Tucciarone Luca; De Bardi Marco; Scimeca Manuel; Angelini Daniela Francesca; Buffa Valentina; D'Amico Adele; Bertini Enrico Silvio; Cazzaniga Sara; Bettica Paolo; Bouché Marina; Bongiovanni Antonella; Puri Pier Lorenzo; Saccone Valentina;/titolo:HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle-resident mesenchymal cells/doi:10.15252%2Fembr.202050863/rivista:EMBO reports (Print)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:21
EMBO Rep

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, Inflammation, Biochemistry, 03 medical and health sciences, Mice, 0302 clinical medicine, HDAC inhibitors, Fibrosis, Genetics, medicine, Animals, Humans, Settore BIO/13 - BIOLOGIA APPLICATA, Muscle, Skeletal, Molecular Biology, duchenne muscular dystrophy, 030304 developmental biology, 0303 health sciences, muscle regeneration, microRNA, Chemistry, Regeneration (biology), Mesenchymal stem cell, Articles, medicine.disease, Cell biology, Transplantation, Histone Deacetylase Inhibitors, Mice, Inbred C57BL, MicroRNAs, Mice, Inbred mdx, medicine.symptom, Stem cell, extracellular vesicles, 030217 neurology & neurosurgery, Ex vivo

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18802ce6cf910dd16d927826f7d50594Test
http://hdl.handle.net/10807/177170Test

9

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

المساهمون: Bello, L., D'Angelo, G., Villa, M., Fusto, A., Vianello, S., Merlo, B., Sabbatini, D., Barp, A., Gandossini, S., Magri, F., Comi, G. P., Pedemonte, M., Tacchetti, P., Lanzillotta, V., Trucco, F., D'Amico, A., Bertini, E., Astrea, G., Politano, L., Masson, R., Baranello, G., Albamonte, E., De Mattia, E., Rao, F., Sansone, V. A., Previtali, S., Messina, S., Vita, G. L., Berardinelli, A., Mongini, T., Pini, A., Pane, M., Mercuri, E., Vianello, A., Bruno, C., Hoffman, E. P., Morgenroth, L., Gordish-Dressman, H., Mcdonald, C. M., Pegoraro, E.

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 786-798 (2020)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0301 basic medicine, Male, Vital capacity, Duchenne muscular dystrophy, Vital Capacity, Gene mutation, Pulmonary function testing, Dystrophin, 0302 clinical medicine, Medicine, Respiratory function, Muscular Dystrophy, Child, Research Articles, General Neuroscience, Respiratory Function Tests, Child, Preschool, Cardiology, medicine.symptom, Respiratory Insufficiency, Research Article, RC321-571, Adult, medicine.medical_specialty, Adolescent, CD40 Antigens, Follow-Up Studies, Glucocorticoids, Humans, Muscular Dystrophy, Duchenne, Osteopontin, Retrospective Studies, Young Adult, Nonsense mutation, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, FEV1/FVC ratio, Internal medicine, RC346-429, Preschool, business.industry, Muscle weakness, medicine.disease, Duchenne, 030104 developmental biology, Duchenne Muscular Dystrophy, Respiratory funcion, FVC, genetic modifiers, Neurology. Diseases of the nervous system, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91aab73f31387b267af70819a635b2b6Test
http://hdl.handle.net/11591/437225Test

10

Congenital myopathies: clinical phenotypes and new diagnostic tools

المؤلفون: Alessandro Malandrini, Maria Teresa Dotti, Enrico Bertini, Marina Mora, Gabriele Siciliano, Denise Cassandrini, Marina Grandis, Adele D'Amico, Eugenio Mercuri, Lorenzo Peverelli, Maria Antonietta Maioli, Giacomo P. Comi, Lucia Ruggiero, Sara Lenzi, Maurizio Moggio, Fabiana Fattori, Marika Pane, Michele Sacchini, Lorenzo Maggi, Angela Berardinelli, Carmelo Rodolico, Giulia Ricci, Antonio Toscano, Alessandro Simonati, Marco Savarese, Rosanna Trovato, Vincenzo Nigro, Francesca Magri, Chiara Fiorillo, Elena Pegoraro, Paola Tonin, Anna Rubegni, Filippo M. Santorelli, Claudio Bruno, Luciano Merlini, Maria Alice Donati, Guja Astrea, Elena Maria Pennisi, Francesco Mari, Lucia Morandi, Lucio Santoro, Olimpia Musumeci, Carlo Minetti, Jacopo Baldacci, Roberto Massa

المساهمون: Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M., Berardinelli, Angela, Bertini, Enrico S., Comi, Giacomo, D'Amico, Adele, Donati, Maria Alice, Dotti, Maria Teresa, Fattori, Fabiana, Grandis, Marina, Maggi, Lorenzo, Magri, Francesca, Maioli, Maria A., Malandrini, Alessandro, Mari, Francesco, Massa, Roberto, Mercuri, Eugenio, Merlini, Luciano, Moggio, Maurizio, Mora, Marina, Morandi, Lucia O., Musumeci, Olimpia, Nigro, Vincenzo, Pane, Marika, Pegoraro, Elena, Pennisi, Elena M., Peverelli, Lorenzo, Ricci, Giulia, Rodolico, Carmelo, Ruggiero, Lucia, Sacchini, Michele, Santoro, Lucio, Savarese, Marco, Siciliano, Gabriele, Simonati, Alessandro, Tonin, Paola, Toscano, Antonio, Santorelli, FILIPPO MARIA

المصدر: Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-16 (2017)
Italian Journal of Pediatrics

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Biopsy, Review, Myopathies, Nemaline, Severity of Illness Index, Pediatrics, Muscular Dystrophies, 0302 clinical medicine, Nemaline myopathy, Needle, Congenital myopathy, medicine.diagnostic_test, Incidence, Biopsy, Needle, lcsh:RJ1-570, Perinatology and Child Health, Prognosis, Immunohistochemistry, Magnetic Resonance Imaging, Hypotonia, Muscle biopsy, Muscle MRI, Next generation sequencing, Disease Progression, Female, Genetic Predisposition to Disease, Genotype, Humans, Risk Assessment, Pediatrics, Perinatology and Child Health, Myopathies, medicine.symptom, medicine.medical_specialty, Nemaline, Muscle disorder, Settore MED/26, 03 medical and health sciences, medicine, Centronuclear myopathy, Myopathy, business.industry, lcsh:Pediatrics, medicine.disease, 030104 developmental biology, business, 030217 neurology & neurosurgery, Central core disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8740aa69ca296d961914b1b62ce262b9Test
http://link.springer.com/article/10.1186/s13052-017-0419-zTest

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