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1Academic Journal
المؤلفون: Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
المصدر: Epilepsia Open, Vol 9, Iss 1, Pp 106-121 (2024)
مصطلحات موضوعية: ADSL deficiency, EEG patterns, epilepsy, genotype‐phenotype correlation, monogenic diseases, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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2Academic Journal
المؤلفون: Costanza Varesio, Simone Gana, Alessia Asaro, Elena Ballante, Raffaella Fiamma Cabini, Elena Tartara, Michela Bagnaschi, Ludovica Pasca, Marialuisa Valente, Simona Orcesi, Cristina Cereda, Pierangelo Veggiotti, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis
المصدر: Diagnostics; Volume 11; Issue 6; Pages: 948
مصطلحات موضوعية: epilepsy, neurodevelopmental disorders, developmental epileptic encephalopathies, next-generation sequencing techniques, exome sequencing, virtual genetic panels, dynamic approach
وصف الملف: application/pdf
Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11060948
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3Academic Journal
المؤلفون: Ilaria Palmieri, Marialuisa Valente, Lisa Farina, Simone Gana, Brigida Minafra, Roberta Zangaglia, Orietta Pansarasa, Daisy Sproviero, Alfredo Costa, Claudio Pacchetti, Anna Pichiecchio, Stella Gagliardi, Cristina Cereda
المصدر: International Journal of Molecular Sciences; Volume 22; Issue 8; Pages: 3870
مصطلحات موضوعية: cerebral amyloid angiopathy, CAA, PSEN1, next-generation sequencing, NGS, compound heterozygous mutations, stop-gain variant, splice variant
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22083870
الاتاحة: https://doi.org/10.3390/ijms22083870
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4Academic Journal
المؤلفون: Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Giuseppe Nappi, Marcella Neri, Cristina Cereda
المصدر: The Journal of Headache and Pain, Vol 18, Iss 1, Pp 1-5 (2017)
مصطلحات موضوعية: ATP1A2, Duplication, Hemiplegic migraine, De novo, Medicine
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Jessica Garau, Vanessa Cavallera, Marialuisa Valente, Davide Tonduti, Daisy Sproviero, Susanna Zucca, Domenica Battaglia, Roberta Battini, Enrico Bertini, Silvia Cappanera, Luisa Chiapparini, Camilla Crasà, Giovanni Crichiutti, Elvio Dalla Giustina, Stefano D’Arrigo, Valentina De Giorgis, Micaela De Simone, Jessica Galli, Roberta La Piana, Tullio Messana, Isabella Moroni, Nardo Nardocci, Celeste Panteghini, Cecilia Parazzini, Anna Pichiecchio, Antonella Pini, Federica Ricci, Veronica Saletti, Elisabetta Salvatici, Filippo Santorelli, Stefano Sartori, Francesca Tinelli, Carla Uggetti, Edvige Veneselli, Giovanna Zorzi, Barbara Garavaglia, Elisa Fazzi, Simona Orcesi, Cristina Cereda
المصدر: Journal of Clinical Medicine; Volume 8; Issue 5; Pages: 750
مصطلحات موضوعية: Aicardi-Goutières Syndrome, Next Generation Sequencing, Interferon signature
وصف الملف: application/pdf
Relation: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/jcm8050750
الاتاحة: https://doi.org/10.3390/jcm8050750
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6Academic Journal
المؤلفون: Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida C. B. Lund, Susanne Blichfeldt, Maria J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina D. Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, S. Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah E. Bürki, Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller
مصطلحات موضوعية: epilepsy, epilepsy genetics, intellectual disability, SCN8A, voltage‐gated sodium channels
Relation: 10779/aru.23779716.v1; https://figshare.com/articles/journal_contribution/The_spectrum_of_intermediate_SCN_8A_related_epilepsy/23779716
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7
المؤلفون: Gaetano Thiene, Mila Della Barbera, Jonida Bejko, Elena Pettenazzo, Cristina Basso, Dario Gregori, Marialuisa Valente
المصدر: International Journal of Cardiology. 341:62-67
مصطلحات موضوعية: Bioprosthetic valves, medicine.medical_specialty, Bovine pericardium, medicine.medical_treatment, Structural valve deterioration, Prosthesis Design, Collagen crimping, Ballooning, Bioprosthetic valve, Dystrophic calcification, medicine, Animals, Humans, Pericardium, Bioprosthesis, business.industry, Valve prosthesis, Calcinosis, Stent, medicine.disease, Prosthesis Failure, Surgery, Stenosis, medicine.anatomical_structure, Aortic Valve, Heart Valve Prosthesis, Cattle, Collagen, Cardiology and Cardiovascular Medicine, business
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8Academic Journal
المؤلفون: Massimiliano Filosto, Stefano Piccinelli, Ilaria Palmieri, Nicola Necchini, Marialuisa Valente, Isabella Zanella, Giorgio Biasiotto, Diego Lorenzo, Cristina Cereda, Alessandro Padovani
المصدر: Journal of Clinical Medicine; Volume 8; Issue 1; Pages: 17
مصطلحات موضوعية: ALS, hereditary spastic paraplegias, HSP, KIF5A, SPG10, axonal neuropathy
وصف الملف: application/pdf
Relation: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/jcm8010017
الاتاحة: https://doi.org/10.3390/jcm8010017
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9
المصدر: J Clin Orthop Trauma
مصطلحات موضوعية: 030222 orthopedics, medicine.medical_specialty, business.industry, medicine.medical_treatment, Osteomyelitis, Ischemia, Soft tissue, medicine.disease, Revascularization, Diabetic foot, Surgery, 03 medical and health sciences, External fixation, 0302 clinical medicine, Diabetic foot ulcer, Diabetes mellitus, medicine, Original Article, Orthopedics and Sports Medicine, 030212 general & internal medicine, business
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10Academic Journal
المصدر: CorSalud, Vol 9, Iss 4, Pp 291-292 (2017)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701
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11Academic Journal
المؤلفون: Rocco Borrello, Elia Bettio, Christian Bacci, Marialuisa Valente, Stefano Sivolella, Sergio Mazzoleni, Mario Berengo
المصدر: Case Reports in Dentistry, Vol 2016 (2016)
وصف الملف: electronic resource
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12Academic Journal
المؤلفون: Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Nappi Giuseppe, Marcella Neri, Cristina Cereda
المصدر: The Journal of Headache and Pain, Vol 18, Iss 1, Pp 1-1 (2017)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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13
المصدر: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology. 55
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Urology, Fibrous tissue, Pathology and Forensic Medicine, Gross examination, Young Adult, Aortic valve replacement, medicine, Animals, Humans, Early failure, Child, Fixation (histology), Bioprosthesis, Sheep, business.industry, Histology, General Medicine, Massive calcification, medicine.disease, Prosthesis Failure, Structural Valve Deterioration, Heart Valve Prosthesis, pathology, Female, Implant, Collagen, Aortic Valve Replacement, Stented Bioprosthesis, Cardiology and Cardiovascular Medicine, business
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14eBook
المؤلفون: Gaetano Thiene, Cristina Basso, Stefania Rizzo, Mila Della Barbera, Marialuisa Valente, Uberto Bortolotti
Resource Type: eBook.
Categories: MEDICAL / Internal Medicine, MEDICAL / Pathology, MEDICAL / Surgery / General, TECHNOLOGY & ENGINEERING / Biomedical
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15
المؤلفون: Gastone Zanette, Alessia Cerrato, Mariagrazia Boccuto, Marialuisa Valente, Christian Bacci, Annalisa Angelini
مصطلحات موضوعية: medicine.medical_specialty, MEDLINE, Clinical manifestation, MRONJ, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Actinomyces, Actinomyces infection, 030223 otorhinolaryngology, BRONJ, Osteonecrosis, Retrospective Studies, Bone Density Conservation Agents, Diphosphonates, biology, business.industry, Retrospective cohort study, 030206 dentistry, biology.organism_classification, medicine.disease, Dermatology, Otorhinolaryngology, Bisphosphonate-Associated Osteonecrosis of the Jaw, Surgery, Oral Surgery, business, Osteonecrosis of the jaw
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16
المؤلفون: Jennifer Doig, Hélio van der Linden, Ram Kumar, Waad Albawardi, Mathieu P Rodero, Caroline A Salmon, Angus Dobbie, Hilde Van Esch, Marie Vermelle, Cristina Cereda, Nick Gilbert, Marine Depp, Andrew P. Jackson, Kevin Rostasy, Robert Olaso, Jean-François Deleuze, Luis Seabra, Frances Elmslie, Davide Tonduti, Diane Doummar, Somdutta Dhir, Duncan Sproul, Alice Lepelley, John H. Livingston, Kate Webb, Yanick J. Crow, Alejandro Rubio-Roldan, Marie-Louise Frémond, Christiaan Scott, Simona Orcesi, Ashish Dhir, Sylviane Peudenier, Guy Touati, Anirban Majumdar, Kate Lamb, Jose L. Garcia-Perez, Vanessa Cavallera, Liesbeth De Waele, Maria José Martin-Niclos, Julien Baruteau, Marie-Thérèse El-Daher, Jonny Hertzog, Jonathan Buckley, Martin A M Reijns, Charles Marques Lorenço, Erika Della Mina, Marialuisa Valente, Karine Brochard, Anne Boland-Auge, Andrew P. Badrock, Ann P. Wheeler, Natalie F. Blair, Carolina Uggenti, Gillian I. Rice, Margarete Koch-Hogrebe, Jan Rehwinkel
المساهمون: University of Edinburgh, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Manchester [Manchester], Centre for Genomics and Oncological Research Pfizer [Granada, Spain], Universidad de Granada = University of Granada (UGR)-Andalusian Regional Government [Granada, Spain], University of Oxford, Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris-Saclay, University College of London [London] (UCL), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), University of Cape Town, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University Hospitals Leuven [Leuven], Chapel Allerton Hospital, Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of London [London], Witten/Herdecke University, Alder Hey Children's Hospital, Gloucestershire Hospitals, Partenaires INRAE, Leeds Teaching Hospitals NHS Trust, Bristol Royal Hospital for Children, Università degli Studi di Pavia = University of Pavia (UNIPV), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Royal Surrey County Hospital (ROYAL SURREY COUNTY HOSPITAL), Royal Surrey County Hospital, Children's Hospital 'V. Buzzi' [Milan, Italy], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), CH Dunkerque, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University of Granada [Granada]-Andalusian Regional Government [Granada, Spain], University of Oxford [Oxford], Hôpital des Enfants, CHU Toulouse [Toulouse], University of Pavia
المصدر: Uggenti, C, Lepelley, A, Depp, M, Badrock, A P, Rodero, M P, El-Daher, M-T, Rice, G I, Dhir, S, Wheeler, A P, Dhir, A, Albawardi, W, Fremond, M-L, Seabra, L, Doig, J, Blair, N, Martin-Niclos, M J, Della Mina, E, Rubio-Roldan, A, Garcia-Perez, J L, Sproul, D, Rehwinkel, J, Hertzog, J, Boland-Auge, A, Olaso, R, Deleuze, J-F, Baruteau, J, Brochard, K, Buckley, J, Cavallera, V, Cereda, C, De Waele, L M H, Dobbie, A, Doummar, D, Elmslie, F, Koch-Hogrebe, M, Kumar, R, Lamb, K, Livingston, J H, Majumdar, A, Lorenco, C M, Orcesi, S, Peudenier, S, Rostasy, K, Salmon, C A, Scott, C, Tonduti, D, Touati, G, Valente, M, van der Linden, H J, Van Esch, H, Vermelle, M, Webb, K, Jackson, A P, Reijns, M A M, Gilbert, N & Crow, Y J 2020, ' cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing ', Nature Genetics, vol. 52, no. 12, pp. 1364-1372 . https://doi.org/10.1038/s41588-020-00737-3
Nature Genetics
Nature Genetics, 2020, 52 (12), pp.1364-1372. ⟨10.1038/s41588-020-00737-3⟩
Nature Genetics, Nature Publishing Group, 2020, 52 (12), pp.1364-1372. ⟨10.1038/s41588-020-00737-3⟩
Uggenti, C, Lepelley, A, Depp, M, Badrock, A P, Rodero, M P, El-Daher, M-T, Rice, G I, Dhir, S, Wheeler, A P, Dhir, A, Albawardi, W, Frémond, M-L, Seabra, L, Doig, J, Blair, N, Martin-Niclos, M J, Della Mina, E, Rubio-Roldán, A, García-Pérez, J L, Sproul, D, Rehwinkel, J, Hertzog, J, Boland-Auge, A, Olaso, R, Deleuze, J, Baruteau, J, Brochard, K, Buckley, J, Cavallera, V, Cereda, C, De Waele, L M H, Dobbie, A, Doummar, D, Elmslie, F, Koch-Hogrebe, M, Kumar, R, Lamb, K, Livingston, J H, Majumdar, A, Lorenço, C M, Orcesi, S, Peudenier, S, Rostasy, K, Salmon, C A, Scott, C, Tonduti, D, Touati, G, Valente, M, Van Der Linden Jr, H, Van Esch, H, Vermelle, M, Webb, K, Jackson, A P, Reijns, M A M, Gilbert, N & Crow, Y J 2020, ' cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing ', Nature Genetics, vol. 52, no. 12, pp. 1364-1372 . https://doi.org/10.1038/s41588-020-00737-3مصطلحات موضوعية: [SDV]Life Sciences [q-bio], Guanosine, Nervous System Malformations, Cell Line, Histones, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Autoimmune Diseases of the Nervous System, Interferon, medicine, RNA Precursors, Genetics, Humans, Gene, 030304 developmental biology, Ribonucleoprotein, 0303 health sciences, biology, ATP synthase, Ribonucleoprotein, U7 Small Nuclear, HEK 293 cells, Hereditary Autoinflammatory Diseases, Membrane Proteins, RNA-Binding Proteins, DNA, HCT116 Cells, Nucleotidyltransferases, Chromatin, 3. Good health, Cell biology, Histone, HEK293 Cells, chemistry, Gene Expression Regulation, Interferon Type I, biology.protein, Nucleotides, Cyclic, 030217 neurology & neurosurgery, medicine.drug
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ff60c1ad94564d27eaeaacc887a26e2
https://www.research.manchester.ac.uk/portal/en/publications/cgasmediated-induction-of-type-i-interferon-due-to-inborn-errors-of-histone-premrna-processing(2af4767a-21e6-4a78-93d2-f68838fee8a8).html -
17
المؤلفون: Valentina Medici, Annalisa Davin, Stella Gagliardi, Marialuisa Valente, Susanna Zucca, Ilaria Palmieri, Cristina Cereda, Tino Emanuele Poloni, Antonio Guaita
المصدر: Alzheimer's & Dementia. 16
مصطلحات موضوعية: Genetics, Epidemiology, Health Policy, Systems biology, RNA, Biology, medicine.disease, Omics, Deep sequencing, Psychiatry and Mental health, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Developmental Neuroscience, chemistry, medicine, Dementia, Neurology (clinical), Epigenetics, Geriatrics and Gerontology, DNA
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18
المؤلفون: Mila Della Barbera, Tomaso Bottio, Gaetano Thiene, Domenico Mangino, Gino Gerosa, Ugolino Livi, Marialuisa Valente, Cristina Basso, Elena Pettenazzo
المصدر: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology. 51
مصطلحات موضوعية: Bioprosthetic valves, 0301 basic medicine, Male, medicine.medical_specialty, Time Factors, Sus scrofa, Valve diseases, 030204 cardiovascular system & hematology, Left ventricular hypertrophy, Prosthesis Design, Pathology and Forensic Medicine, Bioprosthetic valve, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Endocarditis, Animals, Humans, Device Removal, Aged, Retrospective Studies, Bioprosthesis, Heart Valve Prosthesis Implantation, business.industry, Calcinosis, Mean age, General Medicine, Aortic Valve Stenosis, Cardiac surgery, Middle Aged, medicine.disease, Prosthesis Failure, Stenosis, 030104 developmental biology, Aortic Valve, Heart Valve Prosthesis, Cardiology, Heterografts, Female, Implant, Cardiology and Cardiovascular Medicine, business, Pericardium, Calcification
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19
المؤلفون: Chiara Castellani, Marialuisa Valente, Roberto Luisetto, Marny Fedrigo, Annalisa Angelini, Matteo Bordignon, Mauro Alaibac
المصدر: Frontiers in Medicine, Vol 7 (2020)
مصطلحات موضوعية: vitiligo, 0301 basic medicine, skin, Pathology, medicine.medical_specialty, melanocyte, Inflammation, Vitiligo, Melanocyte, medicine.disease_cause, Autoimmunity, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Depigmentation, In vivo, medicine, lcsh:R5-920, treatment, integumentary system, business.industry, pathogenesis, autoimmunity, Melanoma inhibitory activity, General Medicine, medicine.disease, melanoma inhibitory activity, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, medicine.symptom, lcsh:Medicine (General), business
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20
المؤلفون: Marialuisa Valente, Davide Tonduti, Pierangelo Veggiotti, Carlo Corbetta, Maria Iascone, Silvia Masnada, Luisa Chiapparini, Chiara Doneda, Luisella Alberti, Laura Assunta Saielli, Cecilia Parazzini, Mario Barbarini, Paolo Bini, Annalisa De Silvestri, Cristina Cereda
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 28
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neurological examination, Degeneration (medical), Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Atrophy, 030225 pediatrics, ECHS1, Basal ganglia, Medicine, Humans, Enoyl-CoA Hydratase, Mutation, medicine.diagnostic_test, business.industry, Brain Diseases, Metabolic, General Medicine, medicine.disease, Phenotype, Magnetic Resonance Imaging, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, 030217 neurology & neurosurgery