نتائج البحث - "Adele d'Amico"

1

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

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

2

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

3

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway

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

4

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

المؤلفون: Adele D'Amico, Carlo Dionisi-Vici, Giulia Tozzi, Enrico Bertini, Daniela Verrigni, Daria Diodato, Fiorella Piemonte, Margherita Verardo, Daniele Ghezzi, Teresa Rizza, Giorgio Tasca, Emanuele Bellacchio, Rosalba Carrozzo, Alessia Nasca, Diego Martinelli, Federica Invernizzi

المصدر: European Journal of Human Genetics. 24:463-466

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4e5c2c6b2e0c3eac8dbf904aa57363Test
https://doi.org/10.1038/ejhg.2015.141Test

5

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

المؤلفون: Rosalba Carrozzo, Patrizia Sabatelli, Marina Scarpelli, Patrizio Sale, Matteo Antonio Russo, Margherita Verardo, Alessandra Tessa, Mon-Li Chu, Laura Lucarini, Guglielmina Pepe, Stefania Petrini, Betti Giusti, Enrico Bertini, Adele D'Amico, Elisabetta Mattioli

المصدر: Neuromuscular Disorders. 17:587-596

مصطلحات موضوعية: Pathology, medicine.medical_specialty, ullrich congenital muscular dystrophy, Ullrich congenital muscular dystrophy, Biopsy, Collagen Type VI, collagen vi defects, Biology, medicine.disease_cause, confocal imaging, Muscular Dystrophies, Genetic Heterogeneity, Myofibrils, Collagen VI, medicine, Humans, Child, Muscle, Skeletal, Myopathy, Cells, Cultured, Genetics (clinical), Skin, rotary-shadowing electron microscopy, Muscle contracture, Mutation, Microscopy, Confocal, Genetic heterogeneity, Homozygote, Muscle weakness, Fibroblasts, medicine.disease, Phenotype, Microscopy, Electron, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79ccd3cae25f5ea6d48f855fc16f0cb6Test
https://doi.org/10.1016/j.nmd.2007.04.010Test

6

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

المؤلفون: Fabiana Fattori, Giorgio Tasca, Adele D'Amico, Enrico Bertini, Marc Vialle, Mauro Monforte, Aleksandra Nadaj-Pakleza, Enzo Ricci, John Vissing

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: Male, Pathology, MRI pattern, Thigh, medicine.disease_cause, Biceps, Congenital, Medicine, Child, Tomography, Genetics (clinical), Mutation, medicine.diagnostic_test, Subscapularis muscle, Skeletal, Anatomy, Middle Aged, musculoskeletal system, TAM, tubular aggregate myopathy, Magnetic Resonance Imaging, Muscle imaging, X-Ray Computed, Neoplasm Proteins, CT, computed tomography, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Neurology, Muscle, Myopathies, Female, medicine.symptom, Myopathies, Structural, Congenital, inorganic chemicals, Adult, medicine.medical_specialty, Adolescent, STIM1, Muscle MRI, Article, Structural, Humans, Stromal Interaction Molecule 1, Myopathy, Muscle, Skeletal, Aged, Muscle biopsy, business.industry, Genetic heterogeneity, Membrane Proteins, Magnetic resonance imaging, Tubular aggregate myopathy, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Tomography, X-Ray Computed

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff54055c76bb403a59cf0c6a400f0145Test
https://pubmed.ncbi.nlm.nih.gov/26255678Test

7

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort

المساهمون: Fattori, Fabiana, Maggi, Lorenzo, Bruno, Claudio, Cassandrini, Denise, Codemo, Valentina, Catteruccia, Michela, Tasca, Giorgio, Berardinelli, Angela, Magri, Francesca, Pane, Marika, Rubegni, Anna, Santoro, Lucio, Ruggiero, Lucia, Fiorini, Patrizio, Pini, Antonella, Mongini, Tiziana, Messina, Sonia, Brisca, Giacomo, Colombo, Irene, Astrea, Guja, Fiorillo, Chiara, Bragato, Cinzia, Moroni, Isabella, Pegoraro, Elena, D'Apice, Maria Rosaria, Alfei, Enrico, Mora, Marina, Morandi, Lucia, Donati, Alice, Evilä, Anni, Vihola, Anna, Udd, Bjarne, Bernansconi, Pia, Mercuri, Eugenio, Santorelli, Filippo Maria, Bertini, Enrico, D'Amico, Adele, Fattori, F, Maggi, L, Bruno, C, Cassandrini, D, Codemo, V, Catteruccia, M, Tasca, G, Berardinelli, A, Magri, F, Pane, M, Rubegni, A, Santoro, L, Ruggiero, L, Fiorini, P, Pini, A, Mongini, T, Messina, S, Brisca, G, Colombo, I, Astrea, G, Fiorillo, C, Bragato, C, Moroni, I, Pegoraro, E, D'Apice, M, Alfei, E, Mora, M, Morandi, L, Donati, A, Evilä, A, Vihola, A, Udd, B, Bernansconi, P, Mercuri, E, Santorelli, F, Bertini, E, D'Amico, A

مصطلحات موضوعية: Male, Bioinformatics, medicine.disease_cause, Cohort Studies, Dynamin II, Congenital, RYR1, Medicine, Connectin, Non-Receptor, Age of Onset, Child, Genetics, Mutation, Congenital myopathy, Skeletal, Middle Aged, Protein Tyrosine Phosphatases, Non-Receptor, Algorithm, Phenotype, Italy, Neurology, Child, Preschool, Centronuclear, DNM2, Neurology (clinical), Muscle, Female, Myopathies, Human, Myopathies, Structural, Congenital, Cohort study, Adult, Adolescent, Genetic Association Studie, Muscle disorder, Aged, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Infant, Infant, Newborn, Muscle, Skeletal, Ryanodine Receptor Calcium Release Channel, Young Adult, Structural, Centronuclear myopathy, Preschool, business.industry, Genetic heterogeneity, medicine.disease, Newborn, Cohort Studie, Age of onset, Protein Tyrosine Phosphatases, business